Doctor insights on:
Intrahepatic Cholestasis Of Pregnancy Abcb4 Gene
NO: Cholestasis of pregnancy does not generally cause pain. The most common symptoms is pruritis (itching). It almost always starts with itching on the palms of the hands and soles of the feet, and it is first noticed at night. The itching spreads to other parts of the body over time. Treatment with ursodiol (bile salts) can improve symptoms. Consultation with a high risk OB is recommended. ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
Fetus's tissue testing on D&C (8 weeks and 2nd early MC) showed turners syndrome in the feutus. Future pregnancy implications of this? Any precautions
Generally no: In general, in each subsequent pregnancy, the chance of having another pregnancy affected by Turner syndrome would not be increased given that it occurs due to a random error in the splitting of chromosomes during the creation of sperm usually, though sometimes also the egg. Unlikely to recur in a first time case. ...Read more
Icp causes itching: I have only had one patient with icp in 27 years of practicing obstetrics. Diagnosis is made by elevated bile salts (detectable by lab test) and the treatment is cholestyramine. Pregnancy outcome should be unaffected by the condition. So icp is rare and makes you miserable, but should not affect your baby. One case however hardly makes me an expert so second opinions welcome. ...Read more
35 week of pregnancy, antibody anti-e (1:8).My blood group:ab ccd.Ee(rh pos), father b+.What does it mean?Why should we test the antogen of the father?
Rh is complicated: Anti-e ("anti big-e") is much less likely to be troublesome than anti-d (the common anti-rh antibody). You inherited two copies of the cde allele, one of several that you can get at your main rh locus, and the father of at least one of your children has at least one copy of an allele with a big e. Titer isn't so important as how junior seems to be doing before birth. Best wishes. ...Read more
Postpartum biopsy "expression of placental alkaline phosphatase and p63 within trophoblastic elements but no expression of p16." what does this mean?
Trophoblastic tumors: This sounds like you are reading this from a placental pathology report. It is important that you discuss this in detail with your doctor who can put it in the context of your individual health history. These tumor markers are used to delineate trophoplastic tumors. If there is a concern for cancer in your health history follow up is very important. ...Read more
3 early MCs & chromosomal abnrml in all fetuses (no birth), is karyotyping of parents the only genetic testing tht can be done? Names of any other pls
It's the starting pt: Parent study comes first.A person can appear normal if they carry all the proper chromosome material but with part belonging to one chromosome swapped with another.(ie, part of a #15 is on #21) When fertilization occurs, the fetus may get part of the mistake and not the other & be defective.Some of these have a partial chance of normal birth, some would always end up a defect.See a geneticist. ...Read more
Hi, fetal ascites dx at 14w, fetal anomaly scan at 15w NAD, TORCH /Amnio NAD, what is the likelihood of a happy/healthy baby please?
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 ?
History/Physical/Lab: Cholestasis is diagnosed by doing a complete medical history, physical examination, and blood tests that evaluate liver function, bile acids, and bilirubin. Additionally, an ultrasound can de done to rule out gall bladder stones causing blockage. 1-2 preg/1000 is affected by cholestasis of pregnancy. It may be related to adverse pregnancy events like preterm labor, or at worse, stillbirth. ...Read moreSee 1 more doctor answer
Preg terminated bec cystic hygroma&other anomalies, lab test(of cells of abortion) says hydatidiform mole, but there was a baby&pulse, how come?
This can co-exist: A normal pregnacy and a molar pregnacy or cells can coexist. ...Read more
My pregnancy was terminated in 2nd month and karyotyping of foetus shows monosomy of chromosome 20.What are the chances of its recurrence.
Unlikely : Based on your age it is unlikely. You are at higher risk than other women your age but yet it is still unlikely you would have another baby with the same genetic issue. ...Read more
QUESTION FOR HEPATOLOGISTS: Could two Fibroscans and 3 ultrasounds miss advanced liver cirrhosis? Biopsy is out of the question
Reasonable test: If biopsy if unreasonable, the a fibroscan is a reasonable alternative. It is quite specific, meaning that if you are low value/result that it's unlikely that you have advanced fibrosis/cirrhosis, the actual percentage or specificity value, depends on your cut off point. So if you provide your specific results docs here may be better able to guide you. ...Read more
Fatty liver: Acute fatty liver of pregnancy (aflp) is a rare, potentially fatal complication that occurs in the third trimester or early postpartum period. Although the exact pathogenesis is unknown, this disease has been linked to an abnormality in fetal fatty acid metabolism. Early diagnosis of aflp sometimes can be difficult because it shares features with other common conditions such as pre-eclampsia, vira. ...Read more
Cystic fibrosis: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. ...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
MRCP "Persistent mild dilation of the central intrahepatic duct. There are areas of mild narrowing & irregularity of the intrahepatic ducts & proximal common duct. No dilation of common bile duct. Gallbladder sludge is present." What causes this?
Nonspecific: I believe that the ductal findings are nonspecific. Sludge in the gall bladder can cause abdominal distress and indigestion. A gastroenterologist would sit down with the radiologist and review the images and decide whether more imaging studies like an MRI or liver biopsy are advisable depending upon your symptoms or lack of symptoms. ...Read more
When your due date arrives, you will be more than ready to have your baby! Most women deliver the baby somewhere between 37 and 42 weeks. According to the American College of Obstetricians and Gynecologists, only 5% of babies arrive on the exact due date. Approximately 7% of babies are not delivered by 42 weeks, and when that happens, it is referred to ...Read more
A condition that can occur in pregnancy where the flow of bile, a digestive fluid produced by the liver, slows or stops. As a result, the bile enters the bloodstream and causes intense itching on the palms of the hands and the soles of the feet, plus ...Read more
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