Hello, We are told that having single gene disorder that had affected our second and third baby continously and got aborted and first baby was miscarried. We lost three babies in sequence. Our family doctor suggested for PGD. Therefore I am looking for a hospital in india where PGD is done. Can you please suggest me an hospital if there is any in bangalore would be nice ? Medical History: 1st Pregnancy - Spontaneous miscarriage . 2nd Pregnancy - Termination fo pregnancy at 21 - 22 weeks due to multi system anomaly. Fetus was sent for autopsy here and was found to have severe fetal hydrops , dysmorphic fascies, small nose, bilateral talipes, Pulmonic stenosis with bicuspid valve morphology, ambiguous genitalia , crossed renal ectopia, kyphoscoliosis, hemivertebra and absent uterus. Fetal karyoptype was not done. 3rd Pregnancy - Nuchal translucency 7.0 mm increased with septations. (CVS done) Head: abnormal, Spine: abnormal, Face: seen, Heart: Cardiac activity present, Abdomen: stomach visible, KUB: bladder visible, Extremities: extremities visible. Head: both lateral ventricles imaged. Posterior fossa cyst seen. Spine: Irregularity and angulation of the spine seent at the lumbar region. Face: Both orbits and premaxillary triangle seen.
My echos have all diagnosed me with pulmonary hypertension however after my recent right heart cath the dr whom I never met before the procedure said I do not have it and my heart is fine. I was told the procedure would take way longer than it did and since I was not sedated at all I heard him telling the fellow dr he was instructing what to do. It not only felt rushed but he was shrugging off everything and when the techs asked about certain things they usually perform during the right heart cath he said no she s fine we don t need to.... The stigma is also attached I am 33 yrs old 120 lbs 5 2 and everyone looks at me and says oh you re too young for heart disease or to be here including this dr and all the staff that took care of me that day. Which I have heard before and then ended up with a pacemaker. Anyway my question is should I be concerned or trust in these results that I do not have pulmonary hypertension? I do not ever want to go through the cath again but I am still very symptomatic and clearly have something still not right.
Hi Me (female, 21 years) and my partner (male, 23 years) had a Haemoglobinopathy screen test (HPLC) My results showed that I’m a probable carrier of an unidentified alpha chain variant. No evidence of thalassemia. HPLC screen for HB: Abnormal peak detected. HbA=80.8% HbF= 0.0% HbA2= 2.2% HbAbnormal=17.0% On the other hand, my partner results showed that he is alpha thalassemia carrier: HbA=97.9% HbF= 0.0% HbA2= 2.1% the HPLC analysis shows a normal pattern. However, Normal Hb A2, Microcytosis and Hypochromina are suggestive of ALPHA THALASSEMIA. In carrier state, alpha thalassemia is clinically not significant. I want to know what are the possibilities of getting a healthy child? we have been told that 50% the child will be alpha thalassemia major, and 25% he will be disabled, so we are left with only 25% of having a healthy baby! We spoke to a doctor about PGD-IVF (Pre-implantation genetic diagnosis), she said with PGD, we can get 100% healthy children. We still didn’t get married, and we were planning to do that. I’m worrying about the results.. should we brake up? or get married and do the PGD..is PGD safe and reliable? Thank you very much in advance,, Regards,,