GynoFiles

How healthy is my baby is the first questions parents ask. Many parents will first want to know what the sex is, and then of course what the chromosomes show. Often parents mistake chromosome screen if " Down's Syndrome screening" ,  as Down's is the most common chromosome disorder at birth. About 2-3% of all pregnancies have structural or genetic fetal abnormalities, and parents want to know how healthy their pregnancy is, and then decisions can be approached with as much education as possible.Older women are at risk for more chromosome disorders. In fact the American Congress of Obstetricians and Gynecologists position is that "screening and invasive diagnostic testing for chromosome problems known as aneuploidy be offered to all pregnant women...regardless of maternal age," this however is not the way most gynos practice, and in fact not reflective of most insurance coverage which varies widely on what tests they will cover for an individual patie...

Over the decades we have found birth defects in the developing fetus in many ways. In the early days we used physical exams and even x-rays, and then we moved to the very sophisticated testing through ultrasound, and finally it moved into looking at various blood factors. In the past few years blood tests for genetic tests have focused on looking for fetal DNA circulating in mom's circulation. Behind the test is actually some scrutiny of the mom's DNA to detect differences and shockingly the lab that produces the chromosome cell free DNA test MaterniT21 , Sequenom, has now reported finding cancer in a mom when looking at her blood for birth defects.  There are many ways at each stage of pregnancy to determine risks of maternal diseases. Getting a pelvic ultrasound is actually a check on the mom's ovaries and any signs of pelvic disease like of the uterus and the bowel (although early cancers cannot be found this way) as well as a genetic screening test. Ultrasound is n...

The "for sure" way to know your baby's sex is to greet your baby on it's birth day! All other methods have some failures, although they are very accurate. The quickest way is to get a blood test of cell free DNA (cfDNA) at about -9 weeks after conception, and you will have a 98% reliable answer in about 10 days. The main purpose of this new test is to detect birth defects. This is detecting placental DNA fragments that are circulating in the blood stream, although often referred to as 'fetal' DNA. Not all fetal DNA is identical to the placental DNA.  In an article, about a study published in the New England Journal of Medicine, discussed NY Times on Feb 27, 2014 they estimate that the new fetal DNA test was ten times better in predicting Down's syndrome than older tests. Even if the new test shows that there is a genetic abnormality, confirmatory testing, such as an amniocentesis, should be done as about half the cases that have an abnormal result have a...