Consultation with a geneticist, when the baby is overdue:

In which cases genetic tests in couples with fertility problems are recommended?

It is presumed that in approximately 15% of men and 10% of women with reproductive problems genetic abnormalities involving chromosome or monogenic defects may be detected. One of the most frequent genetic tests offered to couples with fertility problems are chromosomal study, Y chromosome microdeletion test (male sex chromosome) DNA analysis of congenital thrombophilia (increased tendency for blood clotting), fragile X chromosome test.

Karyotype testing is a gold standard in exploring genetic causes of male and female infertility.

When no pregnancy has been achieved within 1 year after a number of attempts, a chromosome analysis needs to be performed.

In men with azoospermia or severe oligoasthenoteratozoospermia (serious semen analysis consclusions) the cytogenetic analysis is a must, especially if assisted reproduction techniques, including insemination are pending.

In female infertility, the chromosome analysis is recommended in all cases of primary ovarian dysfunction and more than 2 miscarriages. The chromosome screening is mandatory for all women willing to undergo an assisted reproduction.

The indications for chromosome analysis include: Partners with reproductive disorders: two or more miscarriages; lack of pregnancy within a year; infertility of unknown etiology; birth of a child with malformation syndrome; stillbirth; azoospermia, severe oligoasthenoteratozoospermia, amenorrhea, early menopause; chromosome aberrations observed in prenatal diagnosis; proven family chromosomal re-arrangement in relatives.

Y chromosome microdeletion analysis is recommended for men with non-obstructive azoospermia and severe oligoasthenoteratozoospermia, irrespective of any other damage to the testicles, and it has to be performed prior to an assisted reproduction.

CFTR gene mutation DNA analysis (homozygous mutations in this gene cause mucoviscidosis) is highly recommended for infertile men with unilateral or bilateral agenesis of vas deferens. CFTR gene mutations do not play an unambiguous role in female infertility. Women with mucoviscidosis are subfertile and are at higher risk of complications during pregnancy. When a mutation is confirmed in one of the partners, a DNA analysis of the other partner has to be done too in order to determine the risk of giving birth to a sick child.

The Fragile X chromosome carrier test is highly recommended for women with oligomenorrheadue to primary ovarian dysfunction (incl. premature ovarian failure). Another indication is a weak response to ovarian stimulation. In case a permutation is discovered, a genetic counseling must be carried out as there is a risk for giving birth to intellectually impaired male children.

  • • Infertile women with known thrombophilia should be closely monitored during pregnancy as they are prone to complications such as preeclampsia, intrauterine growth retardation, placental abruption, premature birth and chronic fetal distress.

Preparation for the test?

The procedure of taking the material is performed with disposable needles and excludes the risk of infecting the patient with blood-transmitted diseases. The only discomfort you may feel is when the blood sample is taken from your vein. It is recommended that blood is drawn after meals.

When can you get your results and whom you have to talk to?

Usually the results are ready within 3 weeks. Rarely, you may need to repeat the blood taking procedure if there is no cell growth in the culture or the material is insufficient.

Consulting a geneticist when you are already pregnant:

When is genetic testing of pregnant woman advisable?

The indications for prenatal genetic analysis of the fetus are:

  • Abnormalities detected during pregnancy
  • The pregnant women is over 35 years old
  • Increased risk after biochemical screening of the pregnant woman
  • A child born with a chromosomal abnormality
  • A family history of chromosomal abnormality
  • Family history of monogenic disease
  • Family history of other congenital malformations


The time for receiving the results depends on the applied genetic diagnosis method. The microarray prenatal analysis takes 1 week, and the routine chromosome analysis - up to 3 weeks. The results of the standard non-invasive prenatal test are ready in 10 business days, and the urgent one – in 1 week. A geneticist in office no. 15 or your obstetrics/gynaecology specialist can explain your results to you.

How to make an appointment with a geneticist at ‘Nadezhda’ Women's Health Hospital:

Please make an appointment for genetic counseling at the Registration desk ofNadezhda’ Women's Health Hospital.

Doctors counseling hours:

Genetic consultations are carried out every Monday after 5:15 pm. It is advisable patients to bring all their relevant medical files.

Under the current Bulgarian Medical Genetics Standard, patients need to sign an informed consent form for any of their genetic tests.

  • PGD with DNA microarray analysis of polar body
  • PGD with DNA microarray analysis of blastomere
  • PGD by FISH analysis of blastomere
  • PGD with DNA microarray analysis of trophectoderm
  • Chorionic villus sampling with chromosomal microarray analysis
  • Amniocentesis with cytogenetic (chromosomal) analysis
  • Microarray analysis of abortion material
  • Chromosomal analysis of peripheral blood
  • DNA analysis of congenital thrombophilia/Y microdeletion

Print this page
Share this page: