Maternal-Fetal Medicine Department
In the Maternal-Fetal Medicine Department future parents can perform the tests necessary for the prenatal diagnosis (imaging, genetics, immunology), in a special environment with the help of several specialists with extensive experience in this field, in offices with state-of-the-art equipment (3D and 4D ultrasound equipment) and the opportunity to perform a very wide range of laboratory tests (cytogenetics, molecular genetics, molecular biology, cytopathology, immunology, serology, hormones, microbiology, etc). In addition to the medical services which cover the entire range of pathology within the prenatal care, our patients can also perform the tests necessary for an early diagnosis of cervical cancer, as well as for a diagnosis of the main maternal conditions (breast and endovaginal ultrasound, determination of HPV infection, etc.).
The centre is addressed to pregnant women, couples and all women who want to check their health state. Advanced examination and intervention equipments in gynecology – ergonomic gynecology tables, provided with all the additional devices necessary for investigation and highly accurate interventions: LASER, colposcope, electrocautery and gynecology extractor, offer a higher reliability in diagnosis and comfort in examination. The Colposcope is an advanced stereo microscope which provides the doctor with a qualitative image for a reliable diagnosis and for safety in performing the cervical surgical procedures. The colposcope is inter-connected by a highly accurate electronic piece to the LASER, thus ensuring a state-of-the-art laser treatment
The Maternal-Fetal Medicine Department is integrated within Academica Medical Centre so the patients have the assurance they are provided with all the services specific to a private medical centre which allows additional medical procedures and multidisciplinary specialized medical care.
The following main directions exist in prenatal diagnosis:
- determination of congenital conditions (by prenatal screening)
- examination of certain special cases with high genetic risk
- determination and monitoring of primitive fetal impairment
- determination and monitoring of fetal impairment in maternal pathologies affecting the product of conception
IN THE FIRST TRIMESTER OF PREGNANCY
Biochemical screening in the first trimester of pregnancy (double test). In collaboration with CYTOGENOMIC MEDICAL LABORATORY, our Maternal-Fetal Medicine Department can perform a fast and highly qualitative prenatal biochemical screening from maternal serum for Down syndrome, defects of the neural tube (spina bifida) and other chromosome abnormalities.
The determination of serum markers which can be identified in the first trimester of pregnancy and which are useful in estimating the risk of the chromosome abnormalities of the fetus have lead to the development of the investigation named double test.
With the purpose of ensuring a better quality of results, the provision of accuracy, precision, reproducibility and rapidity of results has been highlighted. These standards are reached by using the new technological, certified and approved by the Fetal Medicine Fundation (FMF). The results are submitted in 24 hours to the laboratory and the patient can find out the result in 48 hours from the collection of the sample.
What is prenatal biochemical screening for chromosome abnormalities?
The prenatal biochemical screening from maternal serum is a non-invasive method and the purpose of this test is to determine the pregnancies with high risk for the most common chromosome abnormalities (Down syndrome, trisomy 18, etc) and to also reduce the proportion of women who would have had to undergo invasive diagnosis methods. This test is conceived for every pregnant woman. It is based on measuring and quantifying several biological markers (free ß-hCG, PAPP-A, AFP) made by the fetus or placenta and which pass into the maternal blood. The calculation of the estimative risk of giving birth to an affected fetus is represented by a statistical analysis based on the measurements of the biochemical markers for the corresponding pregnancy week (age of the pregnancy) in combination with the risk given by the age of the mother and ultrasound markers (nuchal translucency)
The optimum risk value can be reached only if the information received about the pregnancy are correct and the measurements of the biochemical markers and nuchal translucency were performed with high precision and accuracy.
Because the precision of the measurement of biochemical markers from the maternal serum is of maximal importance to determine the risk factor, CYTOGENOMIC MEDICAL LABORATORY offers a prenatal biochemical screening with a higher precision compared using BRAHMS KRYPTOR immunoanalyzer and the results are issued in 24 hours – in 48 hours from sampling the results are available at Academica Medical Centre.
The uniqueness and superiority of this method consists of a very good intra- and inter-assay reproducibility which provides technically validated results and the measurement technology - TRACE (Time-Resolved Amplified Cryptate Emission Technology) which allows the measurement of markers in 20 minutes.
The Kryptor method for prenatal biochemical screening meets the high standard of quality of FMF (Fetal Medicine Foundation).
When is the prenatal biochemical screening recommended for chromosome abnormalities?
In the first trimester (week 10→13+6) the most widely used biochemical markers for prenatal screening are free β-hCG si PAPP-A.
Using the automatic immunoanalyzer, the determination rate of the risk afferent to the first trimester of pregnancy, given only by the biochemical markers, increases to 67%. According to the studies performed by FMF it has been shown that for the first trimester the combination of maternal age, measurements of the nuchal translucency carried out by the specialists and concentration of PAPP-A and free ß-hCG measured by the immunoanalyzer increases the determination rate of most common chromosome abnormalities to 90% with 5% false positive results.
The biochemical screening for the first trimester of pregnancy is much more sensitive compared to the biochemical screening in the second trimester. The prenatal biochemical screening from maternal serum is a prognosis test which will offer an estimative risk of the condition and this is why there is no "risk-free" result.
Ultrasound screening: the ultrasound for the first trimester of pregnancy is ideally performed in week 12, within the range of 11 weeks and 13 weeks and 6 days. The ultrasound made in the first trimester estimates the correct gestational age depending on the length of the fetus, identifies multiple pregnancies and evaluates the risk of chromosome malformations by measuring the nuchal translucency and other ultrasound markers: nasal bone, venous duct, tricuspid regurgitation, heart rate. The determination of the fetal abnormalities is limited by the small dimensions of the fetus and by the incomplete development of some fetal structures. Therefore, during this period, between 18% and 50% of the fetuses carrying a malformation can be identified (Souka AP, Pilalis A, Kavalakis I et. al -"Screening for major structural abnormalities at the 11 to 14 week ultrasound scan", Am J Obstet Gynecol 2006). The ultrasound is the most reliable method of determining the chromosome abnormalities when it is being performed during the first trimester, associated to the serum testing. Given these conditions, the rate of determination exceeds 90%. By performing a simple ultrasound only 62%-81% of aneuploidies can be identified. In addition to an overview of the entire embryo, an assessment of the placenta, gestational sac, uterus and ovaries, with the initial measurement of the cervix, is performed. Because of the small dimensions of the embryo, the use of an advanced ultrasound equipment is essential.
Early determination of preeclampsia risk. Preeclampsia or pregnancy toxemia is a syndrome which represents a complication of the pregnancy, shown as arterial hypertension, protein loss through the urine (proteinuria) and edemas.
It usually occurs in women who have a first pregnancy and in multiple pregnancies. It usually occurs at the end of the second trimester and beginning of the third trimester of pregnancy.
If preeclampsia is not treated, the clinical course leads to eclampsia, which can cause the death of the mother and fetus and is manifested as seizures, loss of consciousness and stiffness of legs and arms. If preeclampsia is identified early, the prognosis is good because the doctor and patient will take the best solutions in order to prevent potential complications.
Chorionic villi biopsy (CVS - Chorionic villi sampling)
The chorionic villi biopsy is an invasive investigation by means of which several chromosome abnormalities of the embryo can be determined, such as Down syndrome. The method consists of obtaining several fragments of chorionic villi, structures with an embryonic origin (trophoblast), which are then used to perform some DNA tests.
The major advantage of the investigation is represented by the fact that it can be performed from a young gestational age, between week 11-16, ideally in week 13, with 4 – 6 weeks before the age when amniocentesis can be performed. The impairment risk afferent to the course of the pregnancy is similar, approximately 1%, given the conditions of a complication-free manipulation. It can also be performed transvaginally, but this procedure is partially abandoned due to the increased risk of infection, or abdominally (under ultrasound guidance – mandatory). As in the case of amniocentesis, the results are available in two stages – at 48 hours and at 2 weeks.
SECOND TRIMESTER OF PREGNANCY
Biochemical screening in the second trimester (triple test)
The second trimester screening, just like the first trimester screening, is represented by the serum determination of several substances made by the fetus and placenta; in the second trimester (week 14→4) free β-hCG and AFP. are the most widely used biochemical markers for prenatal screening.
The investigation known as triple test includes:
- determination of three maternal serum markers: AFP, HCG and unconjugated estriol;
- calculation of the risk for each marker, correction of the risk depending on the maternal clinical data;
- risk for Down syndrome at birth;
- risk of neural tube defect at birth;
- risk of trisomy 18 at birth.
The rate of determination of the risk given by biochemical markers is 65% in the second trimester.
Ultrasound screening: the second trimester ultrasound is ideally performed in week 22, within the ranges between 20 and 24 week. At this moment the fetus is completely developed and comprehensive evaluation is possible. The period during which the second trimester ultrasound is performed is optimum for the morphologic analysis of fetal organs. The ultrasound estimation of the gestational age in the second trimester carries an error between 7 and 14 days, depending on the used parameters.
The estimation of the fetal weight is made with an error of +/-10% because of the weighing conditions and because of the processing of information performed by the ultrasound program. The gender of the baby is precisely identified upon the second trimester ultrasound.
The second trimester ultrasound can identify a series of fetal malformations which can increase the risk of having a fetus with a genetic condition. According to the greatest European study, Eurofetus, carried out in 61 prenatal diagnosis centres, minor heart abnormalities are identified in 20.8%, the major ones in 38.8%, urinary abnormalities are identified in 88.5%, those of the central nervous system in 88.3%. Generally, the determination rate for major fetal abnormalities does not exceed 75%, and the rate is 45% for minor fetal abnormalities (Grandjean H, Larroque D, Levi S.- "The performances of routine ultrasonographic screening of pregnancies in the Eurofetus Study" Am J Obstet Gynecol 1999181:44). The likelihood to occur other abnormalities which are shown subsequently to the gestational age when the ultrasound was performed is not excluded.
The second trimester ultrasound can identify a series of fetal malformations which can increase the risk of having a fetus with a genetic condition. The identification of abnormalities incompatible with a normal life for the child still allows the therapeutic interruption of the pregnancy (up until week 24). Studies show that prenatal diagnosis has reduced the number of children born with major disabilities with up to 35%, but did not improve prenatal mortality or morbidity at all.
Amniocentesis is an invasive procedure, it is not a routine intervention (just like chorionic villi biopsy) and it is recommended just for pregnant women who have a high risk of giving birth to a baby with a genetic disease and who show modifications of the triple test previously performed.
Amniocentesis is the only method through which we can diagnose with certainty the genetic diseases of the fetus, and the majority of the chromosome abnormalities, respectively, underlying some severe genetic syndromes, out of which Down syndrome is the most widely known and, unfortunately, the most common.
Within our clinic, amniocentesis is performed in pregnant women with a high risk of fetal genetic abnormalities, due to state-of-the-art ultrasound equipment. In addition, we guarantee the use of disposable materials, highly qualitative puncture needles, materials for the protection of the patient, together with supportive personnel – both professionally, and emotionally, in a friendly environment. The samples are collected on the day of collection and sent right away to a genetic diagnosis centre and the patient benefits of a fast result after 48 hours, the precision of which, given that the amniotic fluid was well collected, exceeds 95%, which will be completed by a 100% result in 2 - 3 weeks.
THIRD TRIMESTER OF PREGNANCY
Third trimester ultrasound is ideally performed in week 32, within a range of 30 and 34 weeks.
The evaluation of morphology in this trimester is a lot more difficult due to the relative immobility of the fetal position, increased bone density and reduced quantity of amniotic fluid. The ultrasound evaluation of the gestational age in the third trimester of pregnancy carries an error between 16 and 21 days, depending on the used parameters.
The estimation of the fetal weight is performed with an error of +/-15% because of the measurement conditions and processing of information performed by the ultrasound equipment. The third trimester ultrasound doubles the sensitivity of the identification of fetal malformations. Minor cardiac abnormalities can be determined which could not previously be detected, as well as a series of abnormalities of the central nervous system and musculoskeletal abnormalities, but the identification rate does not exceed an average of 56%. The third trimester ultrasound is the examination that allows the diagnosis of structural abnormalities with late onset, fetal growth disorders and final diagnosis of placenta localization.
It is another assessment method for the health state of the fetus.
It is performed after the standard ultrasound – at any of the three ultrasound examinations during pregnancy (first, second and third trimester) – and plays the role of measuring the blood flow in certain organs of the fetus (brain, liver, heart, umbilical cord). In the same time, in addition to the fetal functional assessment through Doppler examinations of fetal blood flow, the procedure also allows a screening of the maternal hypertensive disorders during the last trimester by analyzing the flow of the uterine arteries, thus allowing the selection of pregnant women with eclampsia risk who benefit of a differential prenatal follow-up.
In case certain fetal regions cannot be examined because of the position of the fetus or abnormalities are determined, the patient is recommended to return for a check-up, a confirmation and indication of subsequent schedule. In certain cases (ventriculomegaly, cerebral malformations, maternal and fetal infections, lung malformations, cystic masses or intra-abdominal dilatations, etc.), the fetal magnetic resonance imaging (FETAL MRI) can complete the lesion schedule, without replacing the ultrasound.
The magnetic resonance imaging is a non-invasive, radiation-free method that uses a powerful magnetic field to create multiplanar images of the human body. The fetal magnetic resonance imaging is an examination performed on the mother, but who focuses on the fetus.
Even though it carries a better differentiation of fetal structures compared to the ultrasound and it is not influenced by particular conditions (such as: a reduced quantity of amniotic liquid, obesity), the fetal MRI is not a routine procedure, it is performed only to confirm an abnormality suspected on the ultrasound or to complete the morphologic and etiologic schedule. The mother does not require any special preparation.
The examination is performed without sedation and without injecting a contrast substance. It can be performed in any position that is comfortable for the patient. The duration of the examination depends on how restless the fetus is, ranging from 20 minutes to one hour.
Even though there is no proof of negative effects on the fetus, the NMR examination is contraindicated in the first trimester of pregnancy. It is performed depending on the indication after 20 weeks of pregnancy. The indications must be justified and documented. The examination is not performed at the request of the mother. Even though it allows a general visualization of the fetus, it is limited to one or two regions at the most.
The main indications are represented by cerebral abnormalities, because the MRI provides a much better examination of the cerebral parenchyma, compared to the ultrasound. It can also be used to describe certain abdominal and chest abnormalities. The interpretation of the examination is laborious and the result is available in a few days.
Even though it is a more expensive and more difficult examination compared to the ultrasound, the offered information serves to prenatal counseling, planning of birth type and perinatal medical care.