Questions related to Prenatal Diagnosis
I have been searching the publications reporting STR markers in the genomic neighborhood of my interest, but I wonder if there might be a more straightforward approach to it.
Also within the UCSC Genome Browser I found di- and tetra-nucleotide microsatellites that are already reported for the region of my interest, but no luck yet in finding tetra nucleotide repeats.
A couple seeking premarital genetic counseling:
Male: heterozygous for ∆3.7 single gene deletion mutation (alpha thalassemia trait)
Female: heterozygous for IVS II-1 G>A mutation (beta thalassemia trait)
What would be the phenotype of a kid carrying both traits?
Thank you in advance.
In the prenatal diagnosis of a fetus with Down syndrome, will always be detected signs of this syndrome through ultrasound? Or are there times when the ultrasound is completely normal?
There are various genes reported for as somatic variants (not germline) in breast cancer. So is it possible for clinician or doctor to say or confirm whether the individual is affected with breast cancer using his somatic mutation profile?
I work on haemophilia and thrombosis so the acronyms of another subspeciality can be mysterious or worse - misleading. I am interested in Thalassaemia as well as haemophilia because in many LDCs (Less Developed Countries) the doctors and centres that care for haemophiliacs also treat thalassaemia. Ideally I would like to meet with a member of your team and find out what you are doing and whether you are open to collaboration with a centre in an LDC.
The risk in prenatal screening tests is hard to visualize for some patients.
Not everybody is familiar with the meaning of statistical risk.
So sometimes it is important to explain patients their risk status with some examples. While some consider 1/ 250 as a relaxing result for their trisomy 21 risk, some couples are very much scared and anxious by a result of 1/650, for example.
This is also true for operational (surgical) risks, or for any risk that comes with the nature of any intervention, such as amniocentesis, cordocentesis, chorion villus biopsy.
What are your examples to explain "a risk associated with a procedure" to a person who does not have an idea of statistical risk?
Hello, Does anyone know of any research on parents responses to Prenatal Consultation service after receiving a problematic fetal diagnosis? I am giving a presentation with Betty Ferrell and a Neonatologist at the Annual Assembly of Palliative care physicians and nurses, Chicago! We are starting with the 'Parents Voices' in our promotion of Neonatal Palliative Care in every NICU in the US.
We discovered the same microdeletion 2q11.1q11.2 for a fetus presenting with cleft lip/ cardiac malformation/ clinodactyly. It is inherited from a father no yet seen in consultation. Is this variant can be considered as a putative cause of a syndrome with malformations and ID.
Conference Paper Microdeletion 2q11.1q11.2 including haploinsufficiency of SN...
Noninvasive prenatal testing based on massively parallel sequencing (MPS) of cell-free DNA in maternal plasma has become rapidly integrated into clinical practice for detecting fetal chromosomal aneuploidy.
Fetal cells circulating in the peripheral blood of preg-
nant women are a potential target for noninvasive
genetic analyses. They include epithelial (trophoblas-
tic) cells, which are larger than peripheral blood leu-
To preventi developmental delays before they happen, what are the guidelines regarding following pregnant women as a physical therapist?
Every woman has a population risk of congenital fetal abnormalities in pregnancy. Array testing reveals many of them, however it is offered only to a selected group because of miscarriage risk of invasive prenatal testing. Non-invasive tests are rapidly evolving. NGS allowing foetal CNV analysis in maternal blood may be available in the near future.
I am looking for the best method to detect criptic chromosomal aberrations
Is there any guideline for writing amniocentesis reports? The question is about writing the gender of baby on amnio report? Is there a rule about this? Some people says why don't you write the gender? Other one says you mustn't write the gender? What is truth about this?
Seeing as PFK,PRGS and SOD1, have a triplicated overload resulting in abherrant metabolism, could a ketone supplement be administered to down regulate the glycolytic pathways, reduce purine synthesis and "feed the brain"?
A pregnant woman seeking prenatal diagnosis of beta thalassemia demonstrated the following test results:
Hb A1 92.3%
Hb A2 7.7%
Hb 11.8 g/dL
MCH 20 pg
MCV 63.6 fL
RBC 5.91 million/uL
However, when beta globin gene was sequenced, no mutations were found. The sequence information obtained covered two regions:
1. from the upstream nucleotide -101 to the nucleotide 35 of intron 2
2. from the nucleotide 556 of intron 2 till the end of 3' UTR
Only homozygous polymorphisms such as CD-2 C>T, IVS II-16 C>G, and IVS II-666 T>C were found. A definite answer is needed for genetic counseling. Any advice will be very much appreciated. Thank you.