Last minute Flashcards

1
Q

What paper talks about oocyte development

A

MacLennan et al

  • crossover at chiasmata
  • dictyate stage
  • chiasmata hold sister chromatids together
  • hromonal stimulation induces groups of dictyate to mature
  • links at chiasmata allow tension to be generated when centromeres from each homolog attach to spindle fibres
  • failure to form crossover can lead to segregation error

(30% maternal aneuploidies)

Age, maintaining chiasmata and sister chromatid cohesion becomes and issue

Position of chiasmata can predispose to missegregation

75% of downs due to missegregation of homologues

Fewer crossovers - 1

More peri-centromeric crossovers

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2
Q

What paper talks abot foetal surgey

A

Maselli and Badillo

> 80% common develop before the 12th week

3D USS developed
-craniofacial, nueral tube, skeletal defects

4D

  • congenital heart defects
  • valve regurge, ejection fraction

Allows assesssment of foetal myocardial function

Guided USS

  • laser ablation in TTTS
  • higher percentage with non functional deficits

EXIT

  • Low transverse incision
  • pumped with ringers solution to maintain uterine volume and prevent contraction
  • ABX bolus
  • Balloon decompressed at 34 weeks by USS guidance
  • Increased survival from 24-54% in previous studies
  • no sig diff in this study
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3
Q

What paper talks about epigenetics and twinning

A

Poulsen et al

Increasing evidence that phenotypic discordance in MZ twins not just due to postnatal environmental factors but also prenatal environmental factors, postzygotic genetic and epigenetic factors

Elderly MZ twins show considerable tissue variation

Difference in gene expression 4x elder-younger

Type 2 diabetic twin, significantly lower birth weights

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4
Q

What paper talks about foetal alcohol syndrome

A

Gupta et al

Alcohol linked to apoptis of NCC

Neuropyschiatric effects of FAS - serotenergic neuron apoptosis in mice

Functional imaging has shown lower serotonin in cortex in children

Ethanol diffuses rapidly and distributes rapidly into foetal compartment

Slower elimination rate

Accumulation

Oxidative stress

decreased concentration of foetal metabolic enzymes

Free radicals due to metabolism
-uncontrolled apoptosis in foetal brain

Ethanol also causes rapid placental vasoconstriction
-inhibits transport of critical cofactors necessary for growth

Risk of FAS

  • timing
  • amount of alcohol

Reversal

  • antioxidant e.g. vit C
  • mixed evidence
  • may be adverse effects like low birth weight
  • folic acid
  • boric acid

Stem cells

  • a recent paper showed foetal rat brain derived stem cells reversed actions of EtOH on gabanergic neurons
  • Reversed memory impairment and cognitive function
  • risk of teratoma
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5
Q

What paper talks about placenta previa

A

Silver 2015

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6
Q

Which paper talks about defective implantation

A

Norwitz ER

Many pregnancy related complications have origin in implantation and placental development

excessive invasion
-accreta

Inadequate
-restricted endovascular invasion - preeclampsia

Molecular mechanism unknown

Injection of prostaglandins into the uterus –> abortion

Uterine prostaglandin synthesis inhibited

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7
Q

Who talks about Myelomeningocoele repair

A

Adzick et al

Primary outcome

  • foetal/neonatal death or need for shunt
  • 68% (foetal surgeru) vs 98% (post natal)
  • shunt placement 40vs82% at 12 months
  • prenatal improved mental development and motor function significantly at 30 months
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8
Q

Who talks about prenatal screening

A

Norton et al 2015

15,841 women

cfDNA

trisomy 21 detected in 100% vs 79%

Lower false positive rates (0.06 vs 5.6%)

Can detect some sex chromosomes aneuploidies

less sensitive than combined test

combined test can identify more anomalies

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