Info

Test to check your susceptibility to celiac disease

Celiac disease is a chronic inflammation of the small intestine, triggered by the intake of gluten in genetically predisposed subjects. Today, gluten is one of the most widespread and abundant components of our diets and it is present in cereals such as oat, durum and soft wheat, emmer wheat, khorasan wheat (commercially known as Kamut®), barley, rye.

Our test determines the genetic susceptibility to celiac disease with a simple oral swab on which a DNA analysis is carried out. In case of a negative test, you can be sure that you are not susceptible to celiac disease, whereas if it is positive, you may proceed with further analyses. (Susceptibility does not mean that the disease is present, but rather that the genetically predisposed subject can develop it, even later in life).
The DNA is collected with a stick covered with cotton wool on the tip (very similar to a cotton swab) and passed into the mouth: a very simple, safe and non-invasive procedure, well-tolerated even by children.
For a successful analysis, these simple rules must be respected:

From one hour before the appointment:

• do not eat
• do not drink coffee, coke, fruit juice, alcohol
• do not smoke
• YOU CAN DRINK WATER

Lactose intolerance test

Lactose intolerance is very common and widespread, being lactose the main sugar contained in milk and dairy products.
Lactose intolerance is the most common among enzyme intolerances due to the absence of the enzyme necessary to metabolize it.
The intolerance occurs in case of a lactase deficiency, the enzyme capable of breaking down lactose (the main milk sugar) into glucose and galactose to make them absorbable by our intestine.
The proposed test does not indicate a pathological condition, but it allows to define the genetic susceptibility to lactose intolerance so that you can adjust your eating habits.

The DNA is collected with a stick covered with cotton wool on the tip and passed into the mouth: a very simple, safe and non-invasive procedure, well-tolerated even by children.
For a successful analysis, these simple rules must be respected:

Starting one hour before the appointment:

• do not eat
• do not drink coffee, coke, fruit juice, alcohol
• do not smoke
• YOU CAN DRINK WATER

Childbirth pathway: what to do when the pregnancy test is positive

With reference to the service charter of Obstetrics and Gynecology of the Local Health Authority ULSS 8 Berica, we report an informative handbook aimed at spreading basic information useful to women who discover they are pregnant and wish to know more about the childbirth pathway.

WE REMIND YOU THAT THIS HANDBOOK IS FOR INFORMATION ONLY, IT DOES NOT CONSTITUTE NOR DOES IT REPLACE IN ANY WAY THE INFORMATION RELEASED BY SPECIALIST MEDICAL STAFF.

First of all, talk to your family doctor or trusted gynecologist. Pregnancy must be confirmed by a blood test (quantitative serial beta-hCG test) that you can perform in any analytical laboratory.
A doctor’s referral is required at the hospital or in the laboratories affiliated with the Healthcare System.
If your pregnancy is confirmed, it is important you go to your gynecologist to check your health and to schedule the tests to carry out.

Things to do when you find out you are pregnant:

• verify the pregnancy with a blood test (quantitative serial beta-hCG test)
• book my first visit with the gynecologist
• perform the tests scheduled for the first trimester of pregnancy
• immediately book the three ultrasound scans and perform the first trimester scan
• ask your trusted gynecologist or specialist about Prenatal Diagnosis, invasive and noninvasive, and plan in advance the tests I choose to perform

Things to do during the second trimester:

• continue monthly visits with the gynecologist
• perform the exams scheduled for the second trimester
• perform the second trimester (morphologic) obstetric ultrasound<
• book the childbirth preparation course

Things to do during the third trimester:

• continue monthly visits with the gynecologist
• perform the tests scheduled for the third trimester of pregnancy
• attend the childbirth preparation course booked during the second trimester
• book the C-section if my gynecologist suggested it
• book the visit for labour analgesia (if desired)
• participate in information meetings
• perform the vaginal and rectal swabs for Streptococcus agalactiae (group B streptococcus)

When will you have to go to the hospital?

You will need to go to the hospital when you start feeling painful contractions or if your water breaks or you have blood discharges.

When you arrive at the Emergency Room of O&G, the obstetrician or the hospital assistant will welcome you and ask you why you came and your documents, that are

• health insurance card
• tax code
• exams and ultrasounds of the pregnancy

This short handbook is available for our customers and it has informational purposes only.
Remember to demand accurate information from your trusted specialist / obstetrician throughout the whole childbirth pathway.

Remember:

Taking care of your baby is a big responsibility and it starts with pregnancy.

About ultrasound scans

What is an ultrasound scan?

It is a non-invasive ultrasound exam. It is the ideal first-level exam for certain parts of the body, such as the abdomen or the thyroid, but also the heart and blood vessels, as it provides lots of information with almost no side effects.

How is it performed?

It is performed with the aid of an ultrasound transducer placed on the interested part; during lower abdominal ultrasounds, it would be better having a full bladder.

When is it performed? Is it a painful exam?

The ultrasound scan is a completely painless exam (it can cause slight discomfort at most) and without side effects.

What is an ultrasound scan used for?

The exam may have multiple purposes, for example: identifying conditions related to the anatomy/function of the organs (liver, spleen, kidneys, bladder, female internal genitalia, prostate, male external genitalia, but also thyroid, joints, and in specific areas, the heart and arteries and veins), identifying anatomical conditions at degenerative or oncological risk, monitoring pre-surgery conditions (e.g. kidney or gallbladder stones, valvular heart disease, venous insufficiency of the limbs), monitoring patients who undergo medical/surgical therapies.

What are the exam limits?

Ultrasound scans have limits: first of all, the acoustic window (region upon which the ultrasound transducer is placed to assess the underlying organs) varies from person to person, depending on their health, previous surgeries, large quantities of air (e.g. intestinal bloating). The accuracy of an ultrasound scan, even if performed under the best operating conditions, is not absolute (that is, there are false negative and false positive cases) and, it sometimes requires further investigations with other methods (second level examinations).

Can further investigations be necessary after the exam?

At the doctor’s discretion, the scan could be repeated after some time, in order to evaluate the evolution of the aspects noted, or completed with other diagnostic imaging techniques (CT scan, MRI…).

Information on gynecological ultrasounds

What is a gynecological ultrasound scan?

It is a non-invasive ultrasound examination of the internal female genital system (uterus and adnexal region).

How is it performed?

It can be performed in two ways:

1. a transvaginal ultrasound scan is performed after emptying the bladder, by introducing a probe inside the vagina, covered by a glove or a special disposable cover. It is the most suitable procedure in most clinical conditions.
2. an abdominal ultrasound scan is performed after adequately filling the bladder by placing the probe on the abdomen, especially under certain conditions (e.g. virgo patient, vaginal stenosis or in case of specific requests).

When is it performed? Is it a painful exam?

The gynecological ultrasound examination, and in particular the transvaginal ultrasound, can be performed at any time of the menstrual cycle or in menopause; it is sometimes more appropriate to do it in a certain period of the menstrual cycle; it is a completely painless exam (it can cause a slight discomfort at most) and without side effects.

What is a transvaginal ultrasound used for?

The exam can have multiple purposes, for example: identifying anatomical/functional pathological conditions of the female internal genitals, identifying anatomical conditions at oncological risk, monitoring patients undergoing medical/surgical therapies, detecting any changes in organs and pelvic structures resulting from genital conditions.

What are the exam limits?

Gynecological ultrasound scans have limitations. For example, in about 10% of ultrasound scans, the endometrium is not visible; in the post-menopause, not being able to visualize the ovaries is possible. The accuracy of gynecological ultrasound scans, even if conducted in the best operating conditions, is not absolute (i.e. there are false negative and false positive cases) and, although transvaginal ultrasound scans are an accurate method in the differential diagnosis between benign and malignant tumefactions, using this test in the screening of gynecological neoplasias is not currently supported by valid scientific data.
Ultrasound scans do not always allow ruling out with certainty a condition affecting the uterus or ovaries.

Can further investigations be necessary after the exam?

At the doctor’s discretion, the exam may be completed with an abdominal ultrasound scan. Repeat the exam after some time may be useful to evaluate the evolution of the aspects noted or to integrate the results with other diagnostic imaging techniques (CT scan, MRI…).

Useful information to prepare yourself for an abdominal ultrasound

For a correct preparation for the exam (liver, biliary tract, gallbladder, spleen, pancreas and kidneys, bladder and prostate ultrasounds), we kindly ask you to read carefully the following information:

• Have a light lunch.
• Come to the clinic with a full bladder at the time of your appointment and start drinking 1/2 liter water thirty minutes before the exam, do not pee.

Useful information for preparing yourself to undergo an ultrasound of other parts of your body

No special preparation is required to perform correctly an ultrasound of other parts of your body. Coming to the visit with comfortable clothes is recommended.

Cell-free fetal DNA test

Are you expecting?

Find out more about the cell-free DNA Test and with a simple blood sample you can get a lot of information about your baby’s health.
At our center, it is possible to carry out this examination which is risk-free for both the mother and the child and it can be performed on all single, twin and autologous pregnancies.
Safe, custom-made and early: these are the most important features of the Cell-free fetal DNA test. This test directly analyzes the fetal DNA circulating in maternal blood.
The test that can be carried out as early as the 10th week of gestation, offering a considerable advantage to all mothers who can thus decide together with their doctors the best diagnostic path for their pregnancies.
However, performing an accurate ultrasound scan, the nuchal translucency, is recommended before the test to find out any indicators that may require an invasive diagnosis, followed by a genetic consultation and then a simple blood test.
Furthermore, at 12 weeks of gestation, performing a Nuchal Translucency ultrasound is possible at our center, immediately followed by genetic counseling and a blood test. Everything can be performed on the same day, unless requested otherwise.

But how does this test work?

During pregnancy, placental cells release DNA (cell-free fetal DNA) into the mother’s blood, which then mix with the mother’s free DNA. This quantity of cfDNA of the fetus is called “fetal fraction”: the cfDNA Test analyzes it and then calculates the risk of fetal chromosome aneuploidies.
The test reliability is scientifically approved and today it offers the best sensitivity and specificity in detecting diseases associated with chromosome alterations (aneuploidies): it is over 99% reliable in detecting Trisomy 21, Trisomy 13 and Triploidy with a false positive rate < 0.1%.

It is a guarantee of quality and accuracy designed for all expectant mothers.

Medical genetics

This centre provides a Medical Genetics service giving before- and after-test consultations for:

• TESTING FOR INFERTILITY
• PRECONCEPTION SCREENING
• PRENATAL TESTING

Available tests:

• KARYOTYPE
• CYSTIC FIBROSIS
• KARYOTYPE + CYSTIC FIBROSIS PACKAGE
• CARRIER SCREENING: screening for healthy carriers of hereditary genetic diseases. These tests can be requested by those with a family history of one of the diseases in question or by anyone wishing to know precisely their status as a healthy carrier in view of a pregnancy
• FETAL DNA TEST
• MODULAR SERVICES: different levels of analysis in order to offer a wide range of possible investigations, from the analysis of the most common trisomies up to in-depth analysis of the whole genome
• PATERNITY/FAMILIARITY TEST: test aimed at ascertaining familiarity/consanguinity between biological samples from different individuals, with legal value