Prenatal Diagnosis - Women's Unit - Ruber International Hospital

Your peace of mind, our priority: prenatal diagnosis with cutting-edge technology

The Prenatal Diagnostic Unit of the Women's Unit at Ruber International Hospital provides the most comprehensive pregnancy checkups available for the well-being of the mother and fetus from before conception until after delivery.

Identifies abnormalities and assesses fetal health from the earliest stages of pregnancy.
Provides the information needed to make decisions about pregnancy management and baby care.
It facilitates the emotional connection between parents and baby, promoting a stronger bond from the beginning of pregnancy.

GESTATIONAL CONTROL AND SCREENING FOR FETAL MALFORMATIONS

Non-invasive prenatal diagnostic techniques

First trimester ultrasound

It should be performed between 11 and 13+6 weeks. It is usually performed transabdominally, although sometimes a transvaginal approach is necessary.

Biochemical markers

The level of two proteins (free ß-HCG and PAPP-A) in maternal blood is measured.

Combined first trimester screening

It allows us to establish the risk of chromosomal abnormalities by combining ultrasound, maternal data, and biochemical analysis of the two proteins in maternal blood. We will estimate the risk of Down syndrome and Edwards syndrome (chromosomal abnormalities) in the fetus in each pregnancy.

Morphological ultrasound (week 20)

It is usually performed between the 18th and 22nd week of gestation and aims to rule out fetal abnormalities.

In our unit, monthly pregnancy monitoring is performed to diagnose late-onset abnormalities and potential fetal developmental disorders early, monitoring fetal well-being using routine Doppler ultrasound until delivery.

3D-4D ultrasound

This technique allows us to easily show the appearance of the fetus to the parents, which further strengthens the emotional bond that is established during pregnancy and childbirth.

We have two state-of-the-art 3D ultrasound devices, the Voluson E8 Expert Ultrasound System with HDLive technology, and the Voluson E6 Expert Ultrasound System.

Fetal DNA study in maternal blood

We have a new noninvasive prenatal screening test that allows us to estimate the fetal risk of suffering from Down syndrome as well as Patau and Edwards syndrome (Trisomy 21, 13 and 18 respectively), detecting fetal DNA in maternal blood and combining cutting-edge sequencing technology with the most advanced bioinformatics.

Quantus FLM Test

Neonatal respiratory morbidity remains the main problem in premature babies despite prenatal and postnatal treatment. However, current tests to detect it require amniocentesis, which limits its practice due to the associated risks and discomfort.

The Women's Unit has the first 100% non-invasive fetal lung maturity test.

The Quantus FLM test offers the opportunity to avoid amniocentesis in predicting neonatal respiratory morbidity. The results are reliable and available within minutes.

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Frequently asked questions about non-invasive techniques

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What are the goals of a first-trimester ultrasound?

Correctly calculate gestational age.

Establish the risk of chromosomal abnormalities by performing combined first-trimester screening and contingent screening based on the results, thereby providing the most accurate risk possible.

Prenatal diagnosis of multiple gestation.

Early prenatal diagnosis of major anomalies.

Predict problems of placental origin such as early preeclampsia or fetal growth retardation.

How accurate is the combination screening test?

The test's sensitivity reaches 90% with a 5% false positive rate. This will reduce the number of invasive tests (chorionic biopsy, amniocentesis, or cordocentesis), which are not without risk (1% of miscarriages). This will also help determine the patient group in which these tests should be performed and optimize their results.

There are three risk groups: low, intermediate, or high risk for developing a fetal chromosomal abnormality. Depending on each risk, the patient will receive different counseling to avoid unnecessary risks.

What does the 20-week ultrasound show?

Study of fetal morphology and the development of different organs.

Study of the fetal heart. Fetal echocardiography.

Doppler study of the uterine arteries. This allows for early prenatal diagnosis of possible pregnancy complications such as intrauterine growth retardation (IUGR) or hypertensive states of pregnancy (HSP).

Study of the length of the cervix to predict the risk of premature birth.

What is 3D-4D Ultrasound?

We have two state-of-the-art 3D ultrasound devices, the Voluson E8 Expert Ultrasound System with HDLive technology, and the Voluson E6 Expert Ultrasound System.

HDlive technology is a second-generation processing tool that provides exceptional anatomical realism and helps enhance depth perception.

On the other hand, if a problem arises, it allows parents to clearly explain its impact and treatment options.

Is fetal DNA testing of maternal blood safe and reliable?

Fetal DNA testing in maternal blood does not pose a risk of miscarriage and is extremely sensitive, with an accuracy rate of over 99%.

What diseases does fetal DNA detect?

It allows the analysis of the presence of X and Y sex chromosome sequences, making it possible to determine fetal sex and the possible numerical alterations that affect these chromosomes and cause, among others, Turner, Klinefelter, triple XXX and XYY syndromes.

In addition, this test helps rule out the presence of microdeletion syndromes such as Cri-du-chat syndrome.

When is it possible to study fetal DNA in maternal blood?

It can be used from the tenth week in pregnancies achieved through fertility techniques (including egg donation) and twin pregnancies.

Invasive techniques

Chorionic biopsy, amniocentesis and cordocentesis

These tests allow us to obtain genetic material from the fetus. This allows us to perform a chromosomal analysis that allows us to detect quantitative genetic abnormalities.

They allow the diagnosis of more than 120 severe genetic syndromes that compromise fetal health and the study of possible fetal infections.

These techniques carry a risk of fetal loss of approximately 1%, so they are usually performed when there is an ultrasound marker or high-risk screening (including high-risk fetal DNA) that leads us to suspect the existence of a chromosomal abnormality.

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OUR PATIENTS

Our patients' opinions

LHC

"Clinical excellence, utmost professionalism, excellent customer service, and outstanding human qualities from the entire team. Thank you always!"

Joa CB

"Excellent service and attention, as well as great professionalism. Thank you for bringing my little girl into the world! And even more so for taking such good care of her when she needed it!"

Gema MC

"Everything is excellent. I've had nothing but good things to say about them since I had my son with them seven years ago."