Dr Eric Daiter has served Monmouth and Middlesex Counties of New Jersey as an infertility expert for the past 20 years. Dr. Daiter is happy to offer second opinions (at the office or over the telephone) or new patient appointments. It is easy, just call us at 908 226 0250 to set up an appointment (leave a message with your name and number if we are unable to get to the phone and someone will call you back).
Availability
"I always try to be available for my patients since I do understand the pain and frustration associated with fertility problems or endometriosis."
Cost
"I understand that the economy is very tough and insurance companies do not cover a lot of the services that might help you. I always try to minimize your out of pocket cost while encouraging the most successful and effective treatments available."
Recurrent Pregnancy Loss: chromosomal
causes
At least 50% of the clinically recognized pregnancies that are
lost in the first trimester have a major chromosomal abnormality
when the products of conception are examined. In pregnancies lost
later in gestation there is also a high rate of chromosomal abnormality,
roughly 30% in the second trimester and 5% in the third trimester.
The "largest single class" of chromosomal abnormality
found in spontaneous abortions are the autosomal trisomies (roughly
50% of abnormal specimens), some of which reveal a maternal age
effect. Monosomy X is the "single most common" chromosomal
abnormality found in spontaneous abortions (roughly 25% of abnormal
specimens), which usually occurs due to a loss of the paternal
sex chromosome (Y chromosome) and is not more common with advancing
maternal age.
Certain chromosomal abnormalities are universally accepted by
infertility specialists as a cause for recurrent pregnancy loss.
Fortunately, these major chromosomal abnormalities are uncommon.
They may occur within either the maternal or paternal chromosomes.
The overall incidence of chromosomal abnormality as the cause
of recurrent pregnancy loss is low (less than 5% of couples with
recurrent losses). The abnormalities associated with recurrent
pregnancy loss include
translocations, which are either "Robertsonian"
(the result of centric fusion following the loss of the short
arms of two participating chromosomes and possibly one of the
centromeres) or "reciprocal" (interchanges of genetic
material among different chromosomes following the breaking off
of pieces of chromosomes such that the total chromosome complement
may still contain all of the genetic material)
inversions, which are either "paracentric"
(rearrangements in the genes on a chromosome following the breaking
off of a piece of chromosomal material and its reattachment in
a different order, not including the centromere) or "pericentric"
(rearrangements within a chromosome that do include the centromere)
possibly recurrentaneuploidy (numeric chromosomal
abnormality), where given couples appear to show a predisposition
toward particular types of chromosomal abnormalities (the most
common being recurrent trisomies) and couples with a loss showing
an abnormal chromosomal complement (in the products of conception)
for an initial pregnancy loss have a much greater chance of another
abnormal chromosome analysis (in the products of conception) if
they suffer another loss (up to 80%).
Robertsonian translocations
involve only the acrocentric chromosomes (consisting of the
"D" chromosomes 13, 14 and 15 and the "G"
chromosomes 21 and 22) where the lost short arms of the involved
chromosomes appear to only contain genes for ribosomal RNA (which
does not result in malformations so that the carriers appear totally
healthy),
may involve the same chromosomes, such as 13/13 or 21/21,
where there is no chance for a normal offspring. A 21/21 translocation
(seemingly the worst case) results in the offspring only having
either a lethal monosomy (50%) or Down's syndrome (50%),
may result from a 21/D or 21/22 translocation where there
are theoretically 6 possible combinations with three of these
being lethal and of the other three there is an equal 33% chance
of having a Down's syndrome, a balanced translocation (normal
appearing as with the parent carrying the translocation) or a
normal set of chromosomes. In reality, for an unknown reason,
experience has shown that there is only about a 10-15% chance
of Down's syndrome if the mother is the carrier and 2-5% chance
of Down's syndrome if the father is the carrier, while the balanced
translocation rate is about 50% in liveborns.
Reciprocal translocations
are rearrangements between chromosomes that do not necessarily
entail loss of genetic material in the "parent" (they
appear normal)
may be passed on to the offspring such that small pieces of
genetic material are either added to or subtracted from the total
chromosome complement (an unbalanced translocation) of the offspring.
This can be either lethal or very damaging (usually resulting
in severe mental retardation and major anomalies)
in reality, experience has shown that there is only a 10-15%
risk of an unbalanced translocation in offspring independent of
whether the mother or father is the carrier
Paracentric inversions
are very difficult to detect on chromosome analysis
are less common than pericentric inversions
are rare causes for recurrent pregnancy loss
may result in early pregnancy loss
Pericentric inversions
are usually easy to identify on chromosome analysis
are detected in about 1 in 1000 couples with recurrent pregnancy
loss
are more likely to result in abnormal crossover of genetic
material during meiosis to yield unbalanced offspring
females with a pericentric inversion have about an 8% chance,
while males with a pericentric inversion have about a 5% chance,
of an abnormal liveborn (depending on the specific inversion detected)
pericentric inversions can develop as the cells taken for
chromosome analysis are grown in culture so that the lab should
be contacted whenever an inversion is reported to identify the
labs experience with similar inversions (to determine the likelihood
of culture artifact)
Whenever a couple has suffered three (or if desired by the couple,
two) spontaneous abortions, an investigation of the chromosomes
for both of the female and male is indicated. This investigation
is normal 95% of the time. If an abnormality is identified, prompt
consultation with an experienced human geneticist is indicated
since the theories and actual experiences in this field are complex
and constantly changing. Preconceptional counseling and planning
with respect to prenatal diagnosis is also important. Unfortunately,
there is no available treatment to "fix abnormal chromosomes"
at this time.