Chromosomal Analysis (Karyotyping)

A large number of cases of early or recurrent miscarriages are caused by chromosomal anomalies of the embryo:

It is believed that more than 50% of first trimester miscarriages is caused by chromosomal anomalies exceed of the embryo. However, most of the times, no karyotypic (chromosomal) analysis of products of conception is performed and as a result a very valuable piece of information regarding the causes of miscarriage is overlooked.

Increased rate of chromosomal abnormalities in women of advanced reproductive age has been well documented. Pregnancies lost due to chromosomal anomalies of the embryo cannot be saved as nature correctly rejects abnormally developing embryos.

  • karyotypic analysis of products of conception
  • karyotypic and Immunohistologiacal analysis of products of conception

Diagnostic prenatal testing for chromosomal abnormalities:

Amniocentesis for amniotic fluid or chorionic villi  karyotyping of embryonic cells allows detection of chromosomal abnormalities of the developing embryo.

  • Amniotic fluid or Chorionic villi  Karyotype
  • Amniotic fluid or Chorionic villi  Karyotype, QF-PCR, delF508 mutation screening
  • Amniotic fluid or Chorionic villi  Karyotype, QF-PCR, delF508 mutation screening and MLPA 21 (detection of 21 microdeletions or microduplications)

During IVF pre-implantation genetic diagnosis (PGD) can be done to test the genetic profile of embryos prior to implantation, before they are transferred to the uterus.

  • 24sure PGD with array-CGH

Non-invasive prenatal testing for chromosomal abnormalities:

Apart from classic testing including prenatal ultrasounds, maternal biochemical screening (PAPP-A etc) non-invasive prenatal testing (NIPT)detecting cell-free fetal DNA present in maternal blood have become available. If the test indicates a high risk for chromosomal or genetic abnormality, an amniotic fluid or a chorionic villi  karyotyoping will be performed to ensure the health of the embryo.

  • NIPT - Non-invasive prenatal testing from maternal blood

Diagnostic tests regarding the chromosomal integrity of the parents: 

Genetic causes for infertility not very common. However in cases of Kleinefelter, Turner or 47,XXX syndromes or specific types of chromosomal translocations, chromosomal abnormality may be the main factor of male or female infertility. Furthermore, CBAVD – congenital bilateral absence of the vas deferens is a condition were the patient is missing one or both vas deferens which connect the  testicles to the penis,it  is associated with a mild (usually undiagnosed) form of cystic fibrosis and occurs because of a mutation in the CFTR gene. Men with bilateral CBAVB, while able to create sperm, they are unable to transport it and as a result they are azoospermic, which means that their semen does not contain sperm. Finally, Microdeletions of the Y chromosome are found in more than 10% of men suffering from oligo- or azoospermia.

  • Peripheral blood karyotyping (Male partner)
  • Peripheral blood karyotyping (Female partner)