Doctor insights on:
Fish Test Accuracy Turners
2 early MCs, heartbeat seen in 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & antiphosopolipid normal. Way fwd? More tests?
Try again: Abnormal chromosome patterns are seen in many of the MC's studied, so this would not be unexpected. If both you and spouse have been karyotyped & normal, you are not carrying a translocation that would doom you both to expect MC's.Consult the clinical genetics department at Toronto Children's if you have not already and see if their is anything more they recommend. ...Read more
3 early MCs no live birth. 32yrs. All tests normal autoimmune, antiphosopolipid, hormonal, karyotyping. Turner's in 1 fetus. Should we try again & how?
Yes: Don't give up, get followed by infertility/hi risk obstetrics doctor, at one point a medical geneticist input might be needed. For genetic / chromosomal disorders. PIGD, Pre- Implantation Genetic Diagnosis can be resorted to so as not to implant an embryo with a known major genetic/chromosomal disease, good luck ...Read more
2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?
Maternal fetal medicine: Specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more
What prenatal tests recommended even after PGS tested embryo. History of 3 MCs With turner's & Trisomy 14, age 34.Need 2nd opinion from few docs pls.?
Same tests: The curent recommendation is that patients who underwent preimplantation testing still undergo the usuall genetic testing during pregnancy. Your doctor can discuss options such as Sequential screening and cell free DNA testing. They may want to test for antiphospholipid antibodies based on your 3 miscarriages. ...Read more
Daughters suspected of having turner's syndrome. Apart from no breasts and missing periods no other symptoms. Is this possible? Genetic tests done.
Yes: There is wide variation in the presentation of turner syndrome. Turner syndrome is caused by the absence of one x chromosome. Sometimes, a person can have mosaicism, which means that the x chromosome is only missing from some chromosomes, not all. People with mosaicism tend to have more subtle presentations. The answer should come from the karyotype (chromosome analysis.). ...Read more
3 early MCs no live birth 32yrs old. Parents karyotyping normal but fetus showed turner's once & trisomy14 next one. Way fwd pls list tests/precaution?
Talk with your DR:
Your question is better directed to the genetic counselor that you have seen,
Also your _DR will be able to give your more accurate information then we are able to give you in this format. ...Read more
3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child?
2 early miscarriages. Heartbeat seen in one, turner's diagnosed on fetus, thyroid usually high. Pregnant again. List of tests I shld do now. Dr unhelp?
I got a positive pregnancy test, but I have no symptoms. My last pregnancy was a blighted ovum (no pg symptoms) before that I miscarried from turner's syndrome (had pg symptoms) is this a bo again?
You can't tell: You cannot tell whether or not this is a blighted ovum just based on the presence or absence of pregnancy symptoms. May women will have more symptoms in one healthy pregnancy versus another healthy pregnancy. Your doctor can perform an ultrasound at 6-7 weeks that can confirm whether or not there is a properly developing pregnancy. Good luck! ...Read more
3 early MCs, 2 showed trisomy 14 & turner's. 34 yrs old now 8 months pregnant through ivf PGS. Didn't do amnio. Any genetic test recommended at birth?
Congrats: Wish you a healthy rest of pregnancy and a healthy baby, genetic testing isn't performed routinely on otherwise healthy newborns, apart from the routine neonatal screening performed where you live. Tandem MS screening is performed in case of suspected metabolic problem, you can ask your pediatrician about whether it is needed? Most early MCs are due to genetic defects, in most people, u r fine ...Read more
Depends on age: If recognized in the newborn period, a ts patient is evaluated for any of the problems that can be hard to detect but cause real problems later like kidney or heart problems. As the enter school they may require some learning assistance. Before the age when puberty generally starts, they may need growth hormone & or female hormones to grow & develop. As adults, they need life skills help & counseli. ...Read more
Missing chromosome X: Affected women have only one chromosome x (instead of the normal two); the syndrome is associated with cardiac defects (coarctation of the aorta, hypoplastic left heart syndrome), infertility and normal intelligence. A famous actress with this syndrome: linda hunt (pictured to the right). ...Read more
45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss. The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood. ...Read more
Turners Syndrome: Turner syndrome is caused in females when there is absence of one xchromosime, the girls are born with one x chromosome and the features are. Short stature, broad chest, low hairline, low set ears and webbed neck. There is non functioning ovaries and they do not get menstruation.They are more prone to congenital heartdisease, hypothyriodism, diabetes and few other conditions. ...Read more
Lack of chromosome: Normal humans have 22 pairs of regular chromosomes (chms) and one pair of sex chms. At conception you are supposed to get one of each pair from each parent. If one of the sex (X) chms is lost from the egg, the fetus (which can survive the mistake) will be born with 22 pr of regular chms and only one X.The defect occurs in the formation of the egg. The effect on the kid varies. ...Read more
Compressed iliac vei: May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery. This result in left leg pain, swelling and deep vein thrombosis. It has now been expanded and is now called non thrombotic iliac vein lesions (nivl), to include both the right and left iliac veins.). ...Read more
Detection/support: At diagnosis, there are tests that need to be done to look for hidden problems in the heart and blood vessels. Most then need normal care in early childhood until they get close to expected puberty. Referral to a pediatric endocrinologist (hormone doc) will assist their short height and transition into female development. Counseling with a geneticist when she becomes older can help her understand ...Read more
I looked it up: This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness[Those who suffer from Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied. This is from Wikipedia - I had never heard of it ...Read more
Timing of error: At conception, the embryo begin duplicating the chromosomes (chms) donated by egg & sperm to form the 23 chromosome pairs. If one x chm didn't make it, you will only have a turner pattern (45 chms xo). If a normal xx pattern starts but an x is lost after several divisions the mosaic is created by having one normal 46xx & another 45xo cell lines replicating throughput the body. ...Read more
Turner syndrome: Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporosis, heart murmur secondary to heart disease, arms turning outwards at the elbows, not having periods during pubertal age, learning disability. ...Read more
Chromosome study: There are some suggestive physical features that will lead some to consider the label. The definitive test is a chromosome study. That can come up with a normal study, a classical turner, 45x0, a mosaic or other non-classical form. ...Read more
Perhaps: Females with turner's syndrome have only one normal x chromosome and have amenorrhea, no ovulation, and are sterile. There is a condition called mosaic where there may be a defective or partial x chromosome along with a normal one. Now, with modern technology such as oocyte donation some women with turner's may carry a pregnancy. There are other risks, however. ...Read more
Online resources: Turner syndrome is caused by absence of one of the female x chromosomes and can have several effects on growth and development. The genetics home reference is a good source for information on chromosomal conditions: http://ghr. Nlm. Nih. Gov/condition/turner-syndrome. Two other good sources are the turner syndrome society and foundation: http://turnersyndrome. Org ; www. Turnersyndromefoundation. Org. ...Read more
45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a girl is born with 45 instead of 46 cms. The loss can affect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until late childhood.Supportive care is needed ...Read more
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 more
Genetic testing: For any suspected condition should be performed as soon as possible, even from birth. ...Read more