Doctor insights on:
Vanishing Twin Syndrome Symptoms
Demise of one fetus: Vanishing twin syndrome is the demise of one twin sometime during the pregnancy. One study suggested it occurred about 20-30% of twin pregnancies. Most commonly it occurs early in the pregnancy and generally the remaining fetus has a good outcome. Its' occurrence later in pregnancy can be associated with adverse maternal and fetal outcomes. ...Read moreSee 1 more doctor answer
Partial: Turner syndrome occurs when a girl only has one x chromosome. Mosaic turner syndrome occurs when some of the cells in a girl have two x chromosomes and the rest have one x chromosome. Women with mosaic turner syndrome can have all of the same problems as women with turner syndrome, but the severity tends to be milder. Short stature, sterility, heart disease, and learning problems can all occur. ...Read moreSee 1 more doctor answer
What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?
A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more
No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read moreSee 1 more doctor answer
It is possible: Edwards syndrome (trisomy 18) is a genetic disorder which can share some features with severe fetal alcohol alcohol syndrome, like a small head (microcephaly) and low birthweight. Typically babies with edwards syndrome also have other malformations (abnormal fingers and feet, heart and/or kidney problems). The neonatologist or pediatrician will send a genetic testing to confirm edwards syndrome. ...Read more
Extra chromosome: In trisomy 18 the patient has an extra chromosome 18. This genetic disorder frequently causes heart and kidney defects. They may have a small head and jaw and usually have severe developmental delay. Here is a link http://www.Trisomy18.Org/site/pageserver?Pagename=whatist18_whatis. ...Read more
Will a vanishing twin (lost at 7 weeks) affect the results of first trimester Down's syndrome blood testing?
Unlikely: These tests rely on the active production of various markers in the blood and so a demised twin this early on will be unlikely to affect the test. These tests however, should be interpreted in the setting of a screening ultrasound to help better understand the risk. That being said, no test is ever 100% accurate, though they are useful. Consultation with a genetic counselor will help. ...Read more
Irregular cycles ...: Most women with pcos have one or more of: irregular periods or no cycles, acne, oily skin, unwanted hair growth especially on the face or lower stomach, infertility or subfertility (difficulty getting pregnant). Some women with pcos have little or no symptoms - we look at symptoms, blood tests and an ultrasound of the ovaries to make the diagnosis. Not all women with pcos have fertility issues. ...Read more
Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?
Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more
Blood problem: When blood from one twin is going to the other twin. One twin grows the other does not twin-to-twin transfusion syndrome ttts; fetal transfusion syndrome last reviewed: september 12, 2011. Twin-to-twin transfusion syndrome (ttts) is a rare condition that occurs only in identical twins while they are in the womb. Causes, incidence, and risk factors ttts occurs when blood moves from one twin. ...Read moreSee 1 more doctor answer
Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?
Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more
Are you referring: to fetal lobulation of the kidneys? That is a normal anatomic variant, not related to an in utero twin. ...Read more
Pregnancy 15 week, ultrasound report.,.. Turner syndrome with cystic hygroma and hydrops fetalis....., your advise required?
Your decision: in the end. These findings in the first trimester usually carry a poor outlook for survival of the baby but there have been many reports of resolution of both cystic hygroma and hydrops as pregnancy progresses. Turner syndrome will always be there. I cannot decide for you but suggest you consider re-evaluating by ultrasound in 3-4 weeks should you decide to continue the pregnancy, you will then know more about the prognosis for the baby and any associated problems such as congenital heart defect etc. see:http://www.turnersyndrome.org/#!child/c4ff ...Read more
Will a vanishing twin (lost at 7 weeks) affect first trimester downs syndrome testing with blood test and ultrasound?
Vanishing twin: No, it would not affect your test result. Ultrasound would show it for a while, but the developing twin will eventually grow big enough to hide it from view. ...Read more
AKA TTTS: Ttts is when twins share abnormal blood vessel connections allowing one baby to "steal" blood from the other. Another name for this syndrome is poly/oli twins because one will have too much amniotic fluid (polyhydramnios) and the other too little fluid (oligohydramnios.) this is a high risk situation that will need to be carefully monitored by serial ultrasound and may require early delivery. ...Read moreSee 1 more doctor answer
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