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Antenatal control and screening for fetal anomalies

Management of pregnancy is one of the most important tasks that a doctor can undertake. Advances in this field have been significant in recent years. In our unit we work for the welfare of the mother and fetus starting before conception and through preconception control, helping the mother to have a smooth pregnancy and delivery. Our team of gynecologists, midwives, pediatricians and anesthetists are at her disposal at all times.

At the Unidad de la Mujer each visit includes the most comprehensive pregnancy controls, with complete gynecological examination and obstetric ultrasound. In addition, from 20 weeks onwards, ultrasound scans in 3D and 4D with two high-resolution ultrasound machines (Voluson E8 Expert with HD live technology and Voluson E6 Expert) are made to ensure maximum welfare for the mother and fetus during pregnancy.

This protocol allows diagnosing any alteration that may arise during pregnancy.

Prenatal diagnosis aims to ensure that during the gestation period the fetus develops properly. It also detects the slightest anomalies that can appear. This way effective treatments can be conveniently scheduled in collaboration with pediatricians, surgeons and other specialists. Together they will determine which is the best and the most appropriate route of delivery, and provide the necessary psychological support for parents to cope with the situation.


NON-INVASIVE TECHNIQUES

First trimester ultrasound:

  • It should be done at 11 to 13-6 weeks of gestation. It is usually done transabdominally, although in some cases the vaginal way is indicated.

Objectives

  • To accurately determine gestational age.
  • To determine risk of chromosomal abnormalities through first trimester combined screening and a further filtering depending on the results in order to calculate risks as accurately as possible.
  • To diagnose possible multiple gestation pregnancies. Around 2 percent of spontaneous pregnancies and 10 percent of assisted ones are multiple. This is the optimum moment to find out whether the fetuses share o not placenta and amniotic sac.
  • Early diagnose of major anomalies
  • Predict problems of placental origin such as preeclampsia and fetal growth retardation.

Ultrasound markers:

  • Nuchal translucency.
  • Nasal bone assessment
  • Increased blood flow across the fetus’s tricuspid valve
  • Increased flow in the fetal venous duct

Biochemical markers:

  • Maternal serum levels of free beta-hCG and PAPP-A proteins

First trimester combined screening:

  • It detects risks of chromosomal abnormalities combining ultrasound, mother’s data and a biochemical exam of maternal serum levels of both proteins. We will evaluate risk of Down and Edwards syndromes (chromosomal abnormalities) for the fetus. The exam has an accuracy rate of 90 percent with a 5 percent of false positives. This way will reduce the number of invasive procedures (chorionic villus sampling, amniocentesis, cordocentesis), which are not without risks (1 percent of miscarriages) and we can pinpoint the group of patients that should undergo these exams, thus optimizing their results.
    We will classify pregnant women into three groups: low risk, medium risk and high risk of fetal chromosomal pathology. This way we can determine quickly and at an early stage the personal risks of chromosomal abnormalities so that the pregnant woman can decide whether she wants a more invasive procedure.
    The patient will be assessed according to the contingencies involved and unnecessary risks will be avoided.

Morphologic ultrasound (20 weeks)

  • It is usually done at 18-22 weeks of gestation and its function is to study the fetus’s morphology and to rule out fetal anomalies.

Objectives

  1. Study of fetal morphology and organs’ development.
  2. Study of fetal heart. Fetal ultrasound cardiography.
  3. Doppler study of the uterine arteries. Il allows early detection of potential pregnancy complications such as Intrauterine Growth Restriction (IUGR) and pregnancy induced hypertension (PIH)..
  4. Measurement of the cervix in order to be able to prevent risk of premature birth.
...

Requisites

  • High Resolution Ultrasound with Doppler and 3D-4D technology
  • Qualified staff with certification Level III-IV by the Ultrasound Department of the Spanish Society of Gynecology and Obstetrics

Ultrasound monitoring of the pregnancy_ At the Unidad de la Mujer we do a monthly monitoring of each pregnancy. This way we can make early diagnosis of fetal abnormalities of late onset as well as of possible disorders in the fetal development. We can control the fetal wellbeing through systematic doppler monitoring of the umbilical and the medial cerebral arteries up to the moment of delivery.


3D-4D ultrasound

This technique allows us to easily show the parents what their child looks like, thus strengthening their ties to it. We have two 3D ultrasound devices: the latest generation Voluson E8 Expert and the Voluson E6 HDlive and Expert. The HDlive technology is a second generation processing tool that provides exceptional anatomical realism and helps increase depth perception.

It also makes possible, should there be any problems, to explain its implications and the possible treatments to the parents in a clear and direct way.


Analysis of the baby’s DNA from mother’s blood

We have a new test of noninvasive prenatal screening that allows to predict risk of fetal Down syndrome as well as Patau and Edwards’ syndromes (trisomies 21, 13 and 18 respectively), detecting fetal DNA in maternal blood and combining cutting edge sequencing technology with the most advanced bioinformatics. This method is non-invasive, does not cause risk of abortion and is extremely sensitive, with an accuracy of above 99 ten percent. It makes it possible to exclude the presence of trisomy 21 in high-risk pregnancies in 98 per cent without of invasive procedures. It also allows testing for the presence of X and Y chromosomes, thus determining sex and possible numerical alterations that may affect these chromosomes and cause, among others, Turner syndrome, Klinefelter, triple XXX and XYY. This test can also rule out microdeletion syndromes such as Cri-du-chat. It can be used after the tenth week, in pregnancies achieved by fertility techniques (including egg donation) and twin pregnancies. It is particularly indicated in medium risk pregnancies for testing Down syndrome, although any patient may request it.


INVASIVE TECHNIQUES

Chorionic villus biopsy, amniocentesis and cordocentesis

These tests obtain genetic material from the fetus, thus allowing a chromosome study to detect quantitative genetic abnormalities. It is also possible to carry out an expanded study by array-CGH using fetal DNA of cells from amniocentesis or chorionic villi, and detect any genetic disorder involving loss (microdeletion , monosomy or chromosomal nullisomy) or gain (duplication / amplification chromosomal trisomy) of genetic material with high resolution material of the whole genome. Therefore this single test can diagnose, in about 7 days, more than 120 severe genetic syndromes that may compromise the fetus’ health. It is also useful detecting possible fetal infections.

The risk of fetal loss is of around 1 per cent. It is usually carried out when there is an ultrasound marker or screening of high risk (including high-risk fetal DNA) suggesting the existence of a chromosomal abnormality.

Obstetrics

Ruber Internacional

Centro médico Ruber Internacional

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