Over the past few months I feel like I am back in High School learning and entirely new vocabulary list. Here is what we have learned so far:Trisomy 21Also, called Down Syndrome, is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Often Down syndrome is associated with some impairment of cognitive ability and physical growth, and a particular set of facial characteristics.
I received this diagnosis at 16 weeks into my pregnancy. Two days after I found out I was having my baby girl.Robertsonian Translocationa common form of chromosomal rearrangement that in humans occurs in the five acrocentric chromosome pairs, namely 13, 14, 15, 21, and 22. Other translocations occur but do not lead to a viable foetus. In humans, when a Robertsonian translocation joins the long arm of chromosome 21 with the long arm of chromosome 14 (or 15), the heterozygous carrier is phenotypically normal because there are two copies of all major chromosome arms and hence two copies of all essential genes.[2] However, the progeny of this carrier may inherit an unbalanced trisomy 21, causing Down Syndrome.
Not only did I learn more about Down Syndrome, but I learned there are different types of Down Syndrome. Grace was diagnosed with Translocation Trisomy. Its amazing what they can tell from an amnio.Nuchal Fold Testa sonographic prenatal screening scan (ultrasound) to help identify higher risks of Down syndrome in a fetus, particularly for older women who have higher risks of such pregnancies. The scan is carried out at 11–13 weeks pregnancy and assesses the amount of fluid behind the neck of the fetus - also known as the nuchal fold or 'the nuchal translucency'. Fetuses at risk of Down tend to have a higher amount of fluid around the neck. The scan may also help confirm both the accuracy of the pregnancy dates and the foetal viability. Its high definition imaging may also detect other less common chromosomal abnormalities.
I have never heard of this test before they told me that her NFT measurement was abnormal. This is what started the additional testing for Down Syndrome.Amniocentisisis a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections [1], in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for genetic abnormalities.
The procedure used to obtain Grace's diagnosis.Clinodactylyis a medical term describing a bend or curvature of the fifth fingers (the "little fingers") toward the adjacent fourth fingers. It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in many genetic syndromes, such as Russell-Silver syndrome, Feingold Syndrome or Down Syndrome. When identified in prenatal ultrasound, it is considered statistically correlated with increased risk of chromosome aberration in the fetus and may be an indication for intrauterine sampling for fetal chromosome analysis.
Little Grace received this diagnosis at 22 weeks. Ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes. The membranous portion, which is close to the atrioventricular node, is most commonly affected in adults and older children. Smaller congenital VSDs often close on their own, as the heart grows, and in such cases may be treated conservatively.
We received this diagnosis at 22 weeks. The doctor is not concerned about the heart, he says the hole is very small, and normally holes of that size close up on their own.Pyelectasisis a dilation of the kidney. It is a relatively common ultrasound finding and is three times more common in male fetuses. In most cases pyelectasis resolves normally, having no ill effects on the baby. The significance of pyelectasis in fetuses is not clear. It was thought to be a marker for obstruction, but in most cases it resolves spontaneously. In some studies it has been shown to appear and disappear several times throughout the course of pregnancy. There is some discussion about what degree of pyelectasis is considered severe enough to warrant further investigation and most authorities use 6mm as the cut-off point. Pyelectasis is considered to be a "soft marker” for Down syndrome. This, along with other factors such as age and a Triple test, may be grounds for an amniocentesis to test for Down syndrome.
I was told at my 28 week ultrasound that appears that Grace's kidney's are dialated. It is nothing that they would worry about, but they will keep an eye on it and make sure everything is ok once she gets here. One doctor simply put it as "her kidneys are not maturing as quickly, but with most babies, they fix them selves before they get here" Lets pray she does just that. PerinatologistMaternal-fetal medicine (MFM) is the branch of obstetrics that focuses on the medical and surgical management of high-risk pregnancies. Management includes monitoring and treatment including comprehensive ultrasound, chorionic villus sampling, genetic amniocentesis, and fetal surgery or treatment. An obstetrician who practices maternal-fetal medicine sometimes is known as a perinatologist. This is a sub specialty to obstetrics and gynecology mainly used for patients with high risk pregnancies.
I have been so priveledged this pregnancy, I get to have two doctors see me on a regular basis. My regular OB and my Perinatalologist.This is all I have learned and Grace isn't even here yet. Two more months, COUNTDOWN!!! I am sure we will have new vocabulary words to add once she gets here.
