about Etiology
of IUFD –biting on the bush?? Forget
about karyotype. Insist on DNA extracted from uncultured or paraffin‐embedded product of conception/fetal tissue and do
array based CGH which is has become a
more accurate and objective alternative for the detection of fetal chromosome
anomalies balanced rearrangements and
low‐grade mosaicism , These may be cause
of IUFD but these can’t be picked up by traditional Karyotype . Here comes the role
of array based CGH(microarray) . What is
CGH ? It implies comparative genomic hybridization (CGH) and array based CGH .
Array technology has become very relevant in last 3 decades in our discipline
too. We know that miscarriage or pregnancy loss (PL) is the spontaneous loss of
an embryo or fetus within the first 20 weeks affecting 10%–15% of
pregnancies .Most miscarriages occur in the first trimester (under
13 weeks) .Recurrent pregnancy loss is defined as two or more pregnancy
losses (Practice Committee of the American Society for Reproductive
Medicine, 2012) and affects 3–5 percent of couples .
Pregnancy
and fetal loss is caused by many factors, some of which are maternal such as
TORCH infections, hypothyroidism, diabetes, uterine anatomical abnormalities
and etc. Other causes are fetal and some are the result of immune reactions
between fetus and mother. The most common fetal cause of early pregnancy
loss is considered to be chromosomal abnormalities, accounting for half of
first trimester and one third of second trimester losses . Traditionally
chromosomal analysis of product of conception by karyotyping has been the
routine test, which has major limitations including its need for viable tissue,
culture failure rates (10%–40%) (maternal cell contamination ); & more importantly resolution (usually below 5–10 Mb).
Recently
with the advent of new technologies comparative genomic hybridization (CGH) and
subsequently array based comparative genomic hybridization (a‐CGH) of DNA extracted from uncultured or paraffin‐embedded product of conception/fetal tissue has become a
more accurate and objective alternative for the detection of fetal chromosome
anomalies.
Among the many advantages of this technique is
the use of DNA instead of metaphase spreads, which makes study of more samples
possible, its objectivity and reproducibility, and its higher resolution .The
major limitation of this technique, is its inability to detect polyploidy, low
grade mosaicism and balanced rearrangements. Whereas, balanced rearrangements
and low‐grade mosaicism are unlikely causes of pregnancy loss,
polyploidy accounts for 8%–15% .
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