If you are tall and slim, you maybe unable to Conceive - Gynecologist in Noida

Many couples from across the globe face a common problem of not being able to enjoy parenthood even after unprotected sex for more than a year. Data suggests that about 10% of couples in their reproductive age face this problem and out of them about 30% of the problem is due to female infertility cases. Many of the cases are also left unexplained and involve problems with both the partners. It is always advisable for such couples to refer and consult a genetic counselor which can counsel both for problems related to female fertility and also the possibilities of the baby acquiring any such condition. In rarest of the cases, a couple may have multiple fertility problems.

One of the major causes of female infertility is endometriosis. It is an abnormal growth of the cells and tissues lining the endometrial wall of the uterus to which the embryo attaches and which is shed during menstruation. The cells of the endometrium attach to a location other than the uterus which may be ovaries, fallopian tubes or the abdominal-pelvic region. A number of studies have been done on this but the exact cause of endometriosis is still unknown. The possible symptoms of endometriosis include:

• Very painful menses along with menstrual cramps
• Painful intercourse, and the pain may not recede
• Pain in the bowel movements and during urination
• Some women may also experience blood in urine

It is also a major reason for infertility in majority of infertile females. The depositions of the endometrial cells on the regions outside the uterus are known as endometrial implants. The exact cause of these implants is unknown but many theories have been suggested for the same. One theory states that during menstruation, there is a back flow of the blood in the uterus. This condition is known as retrograde menstruation, but, however not all females with retrograde menstruation develop endometriosis. Another theory says that the organs in the abdominal pelvic region have some form of primitive cells which outgrow in a different manner and result in endometrial implants. Approximately, 20-50% of women who are treated for infertility have this problem.

Endometriosis is most common in women who are tall, slim and have a very low body mass index (BMI). But this kind of problem is uncommon in post menopausal women. The pain associated with endometriosis varies from time to time and also from one female to another. Not all, but in some females the pain may resolve automatically even without a prescribed treatment. The endometrial implants may inhibit the entry or passage of egg in the fallopian tube and also releases hormones which have a negative impact on ovulation of the egg, fertilization of the sperm and implantation of the embryo.

With improved IVF procedures and state of the art techniques, we are capable to cope up with this infertility problem and help such females to become pregnant and enjoy motherhood with a success rate of about 45-50%.

Genetic Counseling in Pregnancy - Gynecologist in Noida

There are many different reasons to have genetic counseling done, as well as different ways to have genetic testing done. I am going to deal mainly with genetic testing as it relates to pregnancy.
First a quick look at genetics...

Every human being has genes, these tiny little switches that determine hair color, eye color, and other traits are packed into 46 chromosomes inside our cells. The human sperm and egg cells are different from other cells in that each only has 23 unmatched chromosomes inside. When pregnancy begins and the egg and sperm are joined you start with a brand new cell, with 46 chromosomes.

Dominant Disorders

Each gene's instructions are either dominant or recessive. Examples of dominant disorders would be: high cholesterol, Huntington disease, extra fingers or toes, glaucoma, etc. Problems caused by dominant disorders can be either nonexistent or quite severe. If a parent has a dominant gene for a certain condition there is a 50% chance that each child would have the disorder.

Recessive Disorders

If only one parent has a recessive disorder gene, then the dominant gene from the other parent will prevent the disorder. If both parents were carriers of a recessive gene then there would be a one in four chance that each child would inherit the disorder. Examples of recessive disorders: sickle cell anemia, Tay-Sachs, phenylketonuria (PKU). Recessively inherited disorders are often more serious.

There are other types of disorders, such as X-linked disorders, and carriers.
Types of Testing

Screening Tests

Maternal Serum Alpha-fetoprotein (MSAFP) - This is a blood test done between 15 - 17 weeks of pregnancy. There is no risk to the baby during this screening. The mother's blood is screened for one or more substances (alpha-fetoprotein, hCG, estriadol). Higher than normal levels may indicate a neural tube defect, while lower values may indicate certain chromosomal disorders, usually Down Syndrome. The problems with this screening are that there are many false positives. This can cause more invasive testing, worry, etc. When the reason may simply be that you are further along than anticipated, you might be having twins. However, a normal test should help relieve anxiety.

Ultrasound - This screening can show if the baby has defects such as kidney problems, heart defects, and limb defects. This procedure does not detect all defects and has not been shown to be helpful in determining Down Syndrome in a fetus. A good ultrasound does not indicate that you will not have a baby with a defect, just decreases the likelihood.

MaterniT21PLUS - This test is run on maternal blood and can look for the most common of genetic disorders, including Down Syndrome. It can be done as early as 10 weeks into pregnancy and does not pose a risk of harm to the baby or pregnancy. It will also tell you if you are having a girl or boy.

Diagnostic Testing

Amniocentesis - This test will screen for all known chromosomal defects by sampling fetal cells in the amniotic fluid. It is done with the placement of a needle, guided by ultrasound, into the uterus to collect the fluid. It is usually done between 15 and 18 weeks of gestation, although some practitioners are doing early amniocentesis as early as 9 weeks. It normally takes two weeks to receive the results. The results can be very accurate, however, they cannot tell you the severity of a present defect. There is also risk to the baby from this procedure. About 1 in 200 women will miscarry after the amniocentesis, even if the baby was unaffected, and about 1 in 1,000 will experience infection. (See more about amniocentesis.)

Chorionic Villus Sampling (CVS) - CVS can be done earlier in pregnancy, some centers are doing it as early as 8 weeks, while most are doing them around 10 weeks gestation. A small tube can be placed through the vagina, or it can be done abdominally and a tiny tissue sample is taken from the outside of the sac that contains your baby. CVS results can be done as soon as ten days. This is less accurate than amniocentesis and the rates of complications are higher. Miscarriage is 1 in 100 or 200, small risk of missing digits (fingers and toes) for 1 in 2,000 or 3,000 of babies. These risks are higher the earlier the CVS is done. (See more about CVS.)