pre pregnancy counselling
Many pregnancies are unplanned and by the time you know you are pregnant, it may be too late to modify certain risk factors.
You may have health issues that may impact on your future pregnancy. If you are planning to embark on a pregnancy and wish expert advice on either your general health or specific health problem, I am happy to offer specialist advice.
NONINVASIVE PRENATAL TESTING (NIPT) FOR DOWN'S SYNDROME
This is a new test that is available for all pregnant women after 10 weeks of pregnancy to check for common chromosomal abnormalities in the baby including Down's syndrome. It involves a single blood test from the mother anytime after 10 weeks. The results are available in a week's time. The test analyses the baby's cells which are present in the mother's blood. The pick-up rate for Down's syndrome is 99%.
Trisomy 18 (Edward's syndrome) and Trisomy 13 (Patau syndrome) are other common chromosomal abnormalities which can be associated with major birth defects in the baby. Very few babies with these abnormalities survive beyond the first year of life. This prenatal test can also pick up these Trisomies. The pick up rate for Trisomy 18 is 97% and Trisomy 13 is 80%. In addition, NIPT test can also analyse the X and Y chromosomes of the baby if the woman chooses to do this.
As the test is highly accurate, it avoids the need for invasive testing in the vast majority of women. It is particularly useful for women with IVF pregnancies and twin pregnancies, thereby significantly minimising the risk of miscarriage by invasive testing. At the moment, the test is not available for women carrying more than 2 fetuses.
Trisomy 18 (Edward's syndrome) and Trisomy 13 (Patau syndrome) are other common chromosomal abnormalities which can be associated with major birth defects in the baby. Very few babies with these abnormalities survive beyond the first year of life. This prenatal test can also pick up these Trisomies. The pick up rate for Trisomy 18 is 97% and Trisomy 13 is 80%. In addition, NIPT test can also analyse the X and Y chromosomes of the baby if the woman chooses to do this.
As the test is highly accurate, it avoids the need for invasive testing in the vast majority of women. It is particularly useful for women with IVF pregnancies and twin pregnancies, thereby significantly minimising the risk of miscarriage by invasive testing. At the moment, the test is not available for women carrying more than 2 fetuses.
nuchal scans
This is a specialised screening test for identifiying babies who have a higher chance of being affected with Down's syndrome. Down's syndrome is one of the commonest chromosomal problems caused by the presence of an extra copy of chromosome No.21. It can result in a range of problems in the baby from mild developmental delay to severe physical and mental disability.
'Nuchal scanning ' measures the fluid behind the nape of the baby's neck. Although all babies have this fluid, babies with Down's syndrome have a higher level of fluid. This scan is more useful when information is combined from a blood test which measures hormones called PAPP-A and beta hCG in the blood. The combination of nuchal scan and the blood test is called the 'combined test' and is performed between 11 and 13+6 weeks. In combination with your age, the results will be read as either 'screen positive' or 'screen negative'.
The combined test is able to pick up four out of five babies with Down's syndrome. This means about one in five babies will not be picked up. The false positive rate for the test is about 2%
If you are 'screen positive', it means you have a higher risk of having a baby with Down's syndrome. As this is only a screening test, you will be offered a more diagnostic test in the form of chorionic villus sampling (CVS) or amniocentesis for confirmation. These are invasive tests and carry a risk of miscarriage.
Alternatively, if you wish to avoid having an invasive test, you could opt to have the Non-invasive Prenatal test, which is highly accurate for Down's syndrome and avoids the risk of miscarriage.
'Nuchal scanning ' measures the fluid behind the nape of the baby's neck. Although all babies have this fluid, babies with Down's syndrome have a higher level of fluid. This scan is more useful when information is combined from a blood test which measures hormones called PAPP-A and beta hCG in the blood. The combination of nuchal scan and the blood test is called the 'combined test' and is performed between 11 and 13+6 weeks. In combination with your age, the results will be read as either 'screen positive' or 'screen negative'.
The combined test is able to pick up four out of five babies with Down's syndrome. This means about one in five babies will not be picked up. The false positive rate for the test is about 2%
If you are 'screen positive', it means you have a higher risk of having a baby with Down's syndrome. As this is only a screening test, you will be offered a more diagnostic test in the form of chorionic villus sampling (CVS) or amniocentesis for confirmation. These are invasive tests and carry a risk of miscarriage.
Alternatively, if you wish to avoid having an invasive test, you could opt to have the Non-invasive Prenatal test, which is highly accurate for Down's syndrome and avoids the risk of miscarriage.
EARLY PREGNANCY SCANS
Pregnancy can be an anxious time for many women. The early part of pregnancy can also be a time with complications and difficulties. If you are experiencing a problem in early pregnancy like bleeding or pain, or simply want reassurance, you can request a consultation with me for early pregnancy scan and advice.
Pregnancy can be an anxious time for many women. The early part of pregnancy can also be a time with complications and difficulties. If you are experiencing a problem in early pregnancy like bleeding or pain, or simply want reassurance, you can request a consultation with me for early pregnancy scan and advice.
Copyright: Priscilla Devaseelan 2019
