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Ts Questions - Postits > Embryology > Flashcards

Embryology Flashcards

1
Q

What is an issue with PB biopsy

A

Analysis of both PB is required to identify Meiosis 1 and 2 errors

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2
Q

ASRM and sart recommend how many embryos to transfer
Picture

A

Euploid= 1 for all

Other non tested= 1, 38-40=2, 41-42=3

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3
Q

Quality management(Qm) includes what

A

Qc, QA, QI and lab accreditation

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4
Q

QC

A

Quality control
Trained personnel
Instruments calibrated
Environment, media reagents
Execution of techniques
Safety manuals
Records
Procedure manuals
Corrective actions

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5
Q

Quality assurance qa

A

Monitor and evaluate quality of outcomes
Set thresholds
Kpis (critical indicators)

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6
Q

Why are sperm good to freeze

A

Smallest human cell with small volume and large surface area
Little cytoplasm
Contain less total intercellular water than other cells
Exist individually, good for dehydration

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7
Q

Sperm cryo temperature range where extra cellular ice formation occurs and induces extra cellular solid phase?

A

-5cā€” -15c

Super cool phase

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8
Q

Standards for sperm banking established by:
Guideline by?

A

American association of tissue banks aatb

ASRM

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9
Q

What causes numerical chromosome defects?

A

Nondisjunction- failure of homologus chromosomes to split during metaphase of meiosis

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10
Q

Klinefelters

A

XXY
Azospermic
Small testis
Sperm available through tese

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11
Q

Xyy males

A

Usually fertile
Aggressive behavior

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12
Q

XX males

A

Genotype female
Phenotype male

Small testis
X blocks meiosis =azospermic
Sertoli only phenotype no sperm to retrieve

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13
Q

Robertsonian translocation

A

Translocations b/t Acrocentric chromosomes (small too long bottom) long sections are translocated to other long section

Usually 13,14 14,15 13,21 or 21,22

Oligospermic
45 chromosomes

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14
Q

AZF spermatogenesis gene microdeletions

A

AZFc= have sperm
AZF a and b= sertoli only, no sperm

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15
Q

What is an aCGH

A

Array comparative genomic hybridization

Microarray recognizes unbalanced gains and losses, CNV( copy number variation) Fluorescence yellow= ok, green =gain, red=loss

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16
Q

Whole chromosome

A

Aneuploidy

17
Q

Partial chromosome abnormalities

A

Translocations and deletions

18
Q

Micro deletions and copy number variants (CNV)

A

Duplications/ deletions in regions of DNA

19
Q

Point mutation

A
20
Q

Sexual determination disorders

A

Gonads fail to form during development due to gene malfunction

Need WT1 and SF1 for gonadal ridge to form
SF1 loss =sex reversal in XY

SRY and SOX9=required for testis differentiation (bio potential gonad towards testis)

21
Q

Nondisjunction (ND) vs Premature Seperation of Sister Chromatids (PSSC)

A

Maternal meiotic errors arise from both

PSSC- 90% maternal meiosis 1 erros result from this

ND- occurs at cross over

See picture

22
Q

3 steps of PGT-A detection

A

DNA amplification
Detection
Analysis

23
Q

Technology for 24 chromosome embryonic Aneuploidy screening

A

Comparative genomic hybridization (CGH)
Quantitative SNP array
QPCR
Nextgen

24
Q

CGH

A

Comparative genome hybridization

Metaphase chromosome, whole gene amplification, dna hybridized to metephase spreads

PBs or embryonic bx dna, labeled with fluorophore (red or green)

Increased brightness=trisomy
Decreased=monosomy

Takes 12hrs-days long time

25
Q

Quantitative SNP array

A

Whole genome amplification dna labeled with a fluorophore and each locus and copy number compared to other snps on the chip

26
Q

Quantitative SNP array

A

Whole genome amplification dna labeled with a fluorophore and each locus and copy number compared to other snps on the chip

Good for microdeletions

27
Q

ArrayCGH

A

CGH on a microarray
Not metaphase chromosomes, dna is hybridized with specific segments from each chromosome. Then measures at a specific segment of the chromosome and replicates each segment.

28
Q

QPCR

A

Quantitation of the number of amplification cycles required to attain a reliably detectable signal for amplification at a specific locus
4 loci on each chromosome and measures in quads (24 chromosomes x 4 loci x 4 rxns)
384 reactions
Amplification and quantitation concurrent so is fast results

Taq polymerase

29
Q

Next gen sequencing

A

Taq polymerase to amplify whole genome to create small fragments of dna- each fragment is sequenced and aligned based on sequence of nucleic acids with sequences from a database.

Segment being analyzed is a depth

More reads = trisomic
Under representation= monosomic

30
Q

PGT-SR-

A

Balanced translocations detection

31
Q

PGT-M

A

Single gene defects

For couples with a known risk for a particular genetic disorder

32
Q

What maintains meiotic arrest Intra oocyte

A

cAMP and cGMP

Ts Questions - Postits (4 decks)

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