Fetomaternal Medicine

THE CENTER IS ONE OF THE FEW FMC IN CYPRUS

The center is one of the few fetomaternal medicine centers in Cyprus. Dr. Agathokleous is one among only nine graduates in Cyprus, which is recognized by the International Fetomaternal medicine institution, the Fetal Medicine Foundation.

The fetomaternal medicine services provided by the center are:

  1. Surgical Services
  2. Ultrasonographic Tests

Surgical Services:

The center offers the below surgical services:

a. Chorionic villus sampling (CVS)

Duration of Examination: 30-45 minutes
Examination Type: Surgical
When the examination is suppose to be taken: From the 10th – 11th week of pregnancy
Purpose: Collecting genetic material for further analysis in the laboratory to find genetic abnormalities, if any (e.g. thalassemia).
Results: 1 week

CVS includes an examination of chorionic villi (placental segments). Fetus and placenta are both developed from the same cell and, therefore, placental chromosomes can be used to examine the fetal chromosomes.

How is CVS examination taken?

First local anesthesia is performed. A fine needle then enters the uterus through the abdominal wall of the mother and a sample of chorionic villi is obtained. The needle is constantly guided by ultrasound in order to avoid any injury of the fetus. The whole process takes a few minutes and then the function of the heart is monitored to make sure everything is normal

What to expect after a CVS examination?

The first 2-3 days you may feel some pain in the abdomen, “period” type pain or slight bleeding. These are relatively common symptoms and in most cases the pregnancy continues without any problems. Simple analgesics, such as acetaminophen (paracetamol) may help you with that. In case you experience severe pain or bleeding or if you have fever, please contact your gynecologist / Hospital.

When can I expect the results?

An initial result will be given to you within a few days but the final results within 2-3 weeks (complete karyotype). The final results will be sent to your doctor.

Is it necessary to repeat the procedure?

In about 1% of cases, CVS surgical exam should be repeated. Reasons for this are either the cell culture failure in the laboratory or non-diagnostic results.

What are the risks associated with this examination?

The risk of miscarriage due to CVS is about 1% and it is the same risk as with amniocentesis at 16 weeks. Some studies have shown that when CVS is taken before the 10th week of pregnancy it slightly increases the risk of fingers defects. To avoid such risk, the CVS is never taken before the 11th week.

b. Amnio-paracentesis

Amnio-paracentesis is a surgical diagnostic method which comprises the introduction of a fine needle in the uterus through the abdominal wall of the mother and obtains the collection of a small amount of the fluid surrounding the fetus. This fluid is fetus urine and the quantity obtained by amnio-paracentesis is produced within a few days.

Amnio-paracentesis provides us with the same information as CVS. Nevertheless, it can be conducted safely only after the 16th week.

The initial results are ready within 4 days and the final results within 2-3 weeks. Once we have the first results will be notified by phone.

The risk of miscarriage due to amniocentesis is 1%. In less than 1% of cases, the test should be repeated due to diagnostic results failure.

a. Multi hydramnios discharge paracentesis

b. Reduction of multiple gestations

The frequency of multiple gestations has increased in recent years and this due to the widespread use of assisted reproduction techniques (IVF treatment, etc.) by couples with infertility problems.

Surveys indicate that one in four pregnancies resulting from IVF treatment is multiple and the frequency of triplet pregnancies has tripled in the last 30 years.

A Multiple gestation is a difficult pregnancy as it involves more risks and complications for both the mother and the unborn. Furthermore, when the pregnancy involves more than two embryos (triplets, quadruplets, etc.) the situation becomes quite serious.

The mother is likely to face gestational diabetes, post partum haemorrhage and preeclampsia, while fetuses have a high risk of premature rupture of fetal membranes, prematurity and intrauterine death. The result is an increased risk of pregnancy loss and increased neonatal morbidity and mortality.

More specifically, a solitary pregnancy lasts 40 weeks, so in general, any birth before the 37th week is considered preterm labor, while a birth before the 32nd week premature. In addition, premature infants with low birth weight are more likely to occur health problems such as respiratory distress syndrome (RDS), cerebral hemorrhage, patent ductus arteriosus, intestinal problems (necrotizing enterocolitis) and retinopathy of prematurity (when born before the 32nd week).

According to studies, the triplets have also limited cognitive skills, in the first 12 to 24 months of their life, compared to infants in singleton pregnancies, suggesting that the triplets have higher risk of cognitive delays.

Indications

To reduce the risks and ensure greater success in triplet pregnancy, the use of selective reduction in pregnancies with more than two embryos, is justified. Furthermore, selective reduction can be used in twin pregnancies in which one of the fetuses suffer from a chromosomal or structural abnormality and parents choose to continue the pregnancy only with the healthy fetus.

Procedure

The selective reduction of multiple embryos is a surgical procedure which is performed during the first trimester of pregnancy. Initially, the embryos are tested for their chorionicity, their location and their anatomy. Then the embryos are evaluated by the method nuchal translucency (nuchal translucency scan, nasal bone flow control in the ductus venosus and tricuspid valve insufficiency) to identify those with the greatest chance of suffering from a chromosomal abnormality. Finally, with the consent of parents, we choose how many and which embryos will be reduced. The procedure is similar with amnio-paracentesis. A thin needle is inserted transabdominally (from the mother’s abdomen), always with ultrasound monitoring, and by an endocardial injection with potassium chloride cardiac asystole is performed on the fetus.

Ultrasonographic Tests

a. Incipient Pregnancy
b. High Risk Pregnancy
c. First Trimester of Pregnancy (conducted at 11-13 weeks of gestation)

This test is done between the 11th and the 13th week and 6 days. Typically the ultrasound is performed transabdominally, but in some cases it may require a transvaginal examination.

The purpose of the 11-13 week ultrasound

  • The accurate calculation of the gestational age. This is essential for women who cannot remember their last period, who have unstable cycle, who have conceived during breastfeeding or immediately after the consumption of contraceptive pills. We measure the size of the fetus and thus the expected delivery date is calculated.
  • Calculation of Syndrome Down risk and other chromosomal abnormalities. Each woman faces different risks at each pregnancy and our center informs them individually. These risks are calculated by the age of the mother, by the measurements of two specific hormones in her blood and the ultrasonographic findings (nuchal translucency, nasal bone, flow in the heart and fetal ductal and any embryonic abnormalities).
  • Diagnosis of multiple gestations. Approximately a 2% of the natural conceives and a 10% of the assisted ones, result in multiple pregnancies. Ultrasound examination can diagnose if both embryos develop normally and if they share the same placenta, which may cause complications during pregnancy. In such cases more intensive monitoring of pregnancy is suggested.
  • Diagnosis of any serious fetal abnormalities. Serious fetal abnormalities can be diagnosed in this trimester, but the anatomical ultrasonographic assessment at 20 weeks is necessary.

Individual risk for chromosomal abnormalities

The embryos at their majority are normal. Nevertheless any woman of any age has a chance to give birth to a baby with physical and / or mental disabilities.

In some cases this disability is due to chromosomal abnormalities (eg. Down’s Syndrome).

The only way to diagnose with certainty whether a fetus has a chromosomal abnormality is through surgical tests such as chorionic villus sampling (CVS) or amniocentesis. These methods, however, carry a risk of miscarriage of about 1%. It is up to the couple to decide whether they want to proceed with any surgical diagnostic method after the first trimester ultrasound. The surgical method is usually provided in case the risk of Down syndrome is greater than 1 in 300.

The most accurate method to calculate the risk of Down syndrome is based on the following and should be done at 11-13 + 6 weeks:

  • The age of the mother
  • Nuchal translucency (fluid behind the neck of the fetus)
  • The nasal bone
  • The heart rate
  • Flow in the tricuspid valve of fetal heart
  • Flow in the ductus of fetal liver
  • Embryonic abnormalities
  • Two hormones levels in the maternal blood (b-hCG and PAPP-A)

Based on the above an individualized risk will be given to you for Down syndrome, Edwards and Patau and you can decide whether you want to proceed with any further tests (surgical or non-surgical).
Regardless of any other test the ultrasound at the 20th – 22nd week is recommended for the embryo’s anatomical check.

d. Second Trimester of Pregnancy

This ultrasound is performed between the 20th and 23rd week of pregnancy. Its main purpose is to control fetal anatomy.

During this test each part of the fetal body is examined, the position of the placenta is determined, the volume of the amniotic fluid is estimated and the smoothness of the fetal development is supervised. Particular attention is paid to the fetal brain, its face, heart, stomach, intestine, kidneys, spine, arms and legs.

Through the Doppler ultrasound, which is coloured, the blood flow in the uterine arteries is controlled. If the resistances in the uterine arteries are increased, then there is a bigger possibility for the mother to develop pre-eclampsia or the embryo to be underweight. Approximately, one between four women with increased resistance will face such problems, while the pregnancy will develop normally for the other three.

Women with an increased risk for premature birth (multiple pregnancy, previous history of preterm birth, congenital abnormalities of the uterus or history of surgery in the neck), should proceed with the transvaginal ultrasound check to measure their cervical length.

You should be aware of that the 97% of children are born absolutely healthy. However there is a small rate of approximately 3% born with smaller or bigger anatomic and chromosomally problems. All ultrasonographic assessments intend to identify these problems to the best possible extent.
With this ultrasound many congenital anatomical abnormalities of the fetus are detected yet not all. A percentage of the conformation and functioning problems of the fetus are diagnosed after its birth.

You may find an indicative list – which is based on the international bibliography – of any congenital abnormalities and the possibility of their detection through the ultrasound, below:

PROBLEM WHAT IS THE PROBLEM POSIBILITY TO BE DETECTED
Meningocele – bidentate spine Open backbone 90%
Anencephaly Absence of cranial bones 99%
Hydrocephalus Excess fluid in the brain* 60%
Major congenital heart defects 25% – 50%
Hernia Defect of the muscle located between the abdomen and thorax 60%
Exomphalos / gastroschisis Abdominal wall defect 90%
Major Kidney Issues Kidneys absence or disorder 85%
Major Limbs Issues Bones absence or shortness 90%
Cerebral Convulsions Convulsions NOT DETECTED
Autism NOT DETECTED
Down Syndrome It may be associated with heart and intestine problems Approximately 40%

* Many cases occur later during pregnancy or even after birth.

e. Third Trimester of Pregnancy

This ultrasonographic assessment is performed after the 24th week in normal pregnancies and it should be carried out as a routine check at about 32 weeks of gestation.

There are several situations that indicate it as mandatory. These are:

  • Low levels of PAPP-A during the examination of nuchal translucency
  • Enhanced resistances in the uterine arteries on B’ Level ultrasound.
  • Multiple gestations
  • Gestational hypertension (preeclampsia) in the present pregnancy
  • Reduction of fetal growth in this pregnancy
  • Prolongation of pregnancy
  • Mother’s Conditions (pre-existing diabetes mellitus, lupus erythematosus, thrombophilia, etc.)
  • Previous pregnancy with retarded intrauterine growth (IUGR) or preeclampsia
  • Prenatal infection (rubella, coxsackie etc.)
  • Severe abnormality Identification on B’ Level ultrasound
  • Fetal chromosomal abnormality
  • Existence of autoimmune antibodies (Anti-La, Anti-Ro) or rhesus (Rh) immunization
    condition.

The purpose of this test is to evaluate the growth and well being of the fetus:

  • Measurement of the head size, the abdomen and thigh bone, and calculation of the fetal weight.
  • Review some basic organs of the fetus, eg. Kidney, heart, brain, etc.
  • Examination of fetal movements
  • Determination of the position and maturation of placenta
  • Volume measurement of the amniotic fluid
  • Measurement of flows in the placenta and the fetus (colour Doppler ultrasound)

f. Multidimensional Ultrasonography 2D / 3D / 4D and HD Live

Today technology allows us to have three-dimensional representation of the fetus.  A Three- Dimensional (3D) Image arises from the synthesis of multiple Two Dimensional (2D) images.  By the use of more advanced machinery, we can see the embryo in three dimensional and in real time (4D), i.e. we can see its movements.  A conventional two-dimension ultrasound image provides us with the most important information about the embryo.  In case of some rare abnormalities, a three-dimensional ultrasound can help us see some organs better, but it is the 2D ultrasound which will basically guide us to make a diagnosis.  The greatest advantage of a three-dimensional ultrasound is that it gives us the pleasure to see “real” images of the embryo in its natural environment.