Anybody thinking of having a baby relishes the idea of a beautifully healthy baby being born. They are more than prepared to take on the responsibility of nurturing the teeny weeny bundle of joy. Not all pregnancies and births go according to plan however, and prenatal tests can detect certain birth defects but there are other birth defects which can't be discovered until after the baby is born. Some women experience the loss of a baby with miscarriage or their baby is born with certain health problems. Bloom syndrome, also referred to as BS, is one of these disorders. It is rare and it is characterised by short stature as well as an increased susceptibility to infections. The disorder is more common amongst people of Jewish background, and in fact some 1 in 48,000 Ashkenazi Jews are affected by BS.
It is distressing for new parents to discover that some babies with Bloom's syndrome also show limitations in intellectual abilities. This is not always the case however, and some people born with BS have normal intelligence. Genetic testing during pregnancy for BS is certainly recommended by The American College of Obstetrics and Gynecology (ACOG) as well as the American College of Medical Genetics (ACMG). They suggest that all couples with Ashkenazi Jewish ancestry should seriously consider testing for Bloom Syndrome.
Genetic tests will find most carriers for any of the Jewish genetic diseases and offers a number of benefits such as:
When both partners are Ashkenazi Jewish , carrier screening can be performed on either partner. The best time to have the carrier screening is actually before you become pregnant, but it can also be done during pregnancy. In this instance, it is best to have the carrier screening as early as possible because the results which guide you towards different decision making options.
If both parents turn out to be carriers for the same genetic disease, then there is a 25% chance of the condition in each of your pregnancies. Prenatal diagnosis at 10 to 13 weeks can diagnose these disorders. For carrier screening it is suggested that couples contact the prenatal diagnostic center and set up an appointment. Couples should know that medical insurances are all different and that it is encourage to know that there are plans that cover the cost of screening while others don't. It is important to find out first about what your medical aid offers.
Bloom Syndrome is an inherited disorder which is associated with different health problems. Genetic tests during pregnancies for BS can be very helpful when you are deciding to have children. Genetic testing ordered by your physician is often based on one's ancestry and one of the advantages of having the tests done is that all the anxiety and guesswork about what you will pass onto your precious children is eliminated.