Chromosome abnormalities and pregnancy losses

Cytogenetics Investigations

Chromosome abnormalities – The overall prevalence of pregnancy losses, including biochemical pregnancies is generally assumed to be 4–5 times higher. Around a quarter of all women experience at least one miscarriage during their lives.

Half of the first-trimester miscarriages are caused by fetal chromosome abnormalities diagnosed by conventional techniques. Conventional karyotyping is defined as the morphological characterization of the chromosomal complement of an individual including number, form and size of the chromosomes. It can detect abnormalities throughout the entire genome and is therefore used as the standard for detecting abnormalities in miscarriages samples

A review of the literature in 2000 reported that 49% of the sporadic miscarriage samples that had been karyotyped, showed chromosome abnormalities. The spectrum of these abnormalities included 86% numerical abnormalities, 6% structural abnormalities and 8% other chromosome abnormalities like mosaicism, or double and triple trisomies.

Techniques such as chromosomal comparative genomic hybridization (chromosomal‐CGH), array-comparative genomic hybridization (array-CGH), fluorescence in situ hybridization FISH, multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescent polymerase chain reaction (QF-PCR) enable us to trace submicroscopic abnormalities.

Abnormal Puberty

Puberty is the period of growth that bridges childhood to adulthood and results in physical and sexual maturity as well as the capacity for reproduction. Significant pathology can result in both advanced ……

Prenatal Diagnosis

There may be unpleasant outcome for the fetus or the mother or both, if the couple had not done the prenatal diagnosis. Congenital anomalies account for 20 to 25% of perinatal deaths. Prenatal ….


This test can detect loss or gain of material in any region of any chromosome as well as both balanced and unbalanced structural rearrangements such as translocations and inversions.


For male infertility, screening tool like Sperm FISH is used for counseling couples with male factor infertility. The analysis can also be undertaken as a rapid investigation for whole chromosome …….

Chromosome Abnormalities

Half of the first-trimester miscarriages are caused by fetal chromosome abnormalities diagnosed by conventional techniques. Techniques such as chromosomal comparative genomic ……..


Chromosomal abnormalities can happen in any cell in the body when egg and sperm cells are being made, during early fetal development, or after birth. A routine cytogenetic analysis involves ……

Cytogenetics Samples

The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. The CIMAR cytogenetics facility accepts a variety of samples for karyotyping, FISH as well as ……..

Genetic Disorders

Genetic disorders of the sex chromosome (like disorders of the autosomes) can be either numerical or structural, and can be present in all cells or in a mosaic form. Samples can be referred for a wide ……..

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