W02: STIs; Genetic Conditions in Pregnancy Flashcards
Describe presenting symptoms and signs of common sexually transmitted infections in the UK
- discharge
- pain
- rashes
- lumps and swellings
- cutes, sores, ulceration
- itching
- change in appearance
- feeling abn.
- systemic symptoms
Describe how STIs are diagnosed and managed, including follow-up
- Nucleic Acid Amplification Tests
- Enzyme immunoassays for chlamydia
Describe the potential sequelae if STI are left untreated
- syndromes
- psychological distress
- infertility; cancer; adverse pregnancy outcomes
Pelvic inflammatory disease with associated ectopic pregnancy and infertility leads the list. Male infertility as a result of sexually transmitted diseases appears uncommon
List the differential diagnosis of people presenting with genital symptoms
uti
prolapse
atrophic vaginistis
incontinence: sx, stress, urge
cystisis
BPH
stricture
stones
obstruction
Outline sexual history taking and how common sexual problems may present
- effective hx taking: +gynae hx
- direct qs regarding symptoms
- partner notification
- HIV testing
- health promotion
- detecting high-risk behaviour and advise risk reduction
Describe some anatomic variants and how to distinguish them from STDs
- pathology to anatomy: cysts, torn frenulum + infection
- commensal overgrowth, dysbiosis, acidity etc.
Vulvovaginal candidosis
Microbial condition not STD/STI - trivial; candida albicans; acquired from bowel; asymptomatic
symptomatic =>thrush: itch, + discharge
* DM, steroid use, imm suppr.
> Clotrimazole
Fluconazole
Bacterial vaginosis: commonest pres, complications, dx, mgmt
*commonest causee of abn vaginal discharge; 50/50 symptom/asympt.
- thin homogenous grey/yellow fishy discharge
- maybe worse after period/sex
- biofilm problem
=> endometritis, premature labour, ⇧risk of HIV acquisition
Dx: clinical, gram stain
> Metronidazole
Clindamycin
Probiotics
Vaginal acidification
Aetiology of BV
Lactobacilli dysbiosis = ⇩H2O2 prod
&
Bacterioa overgrowth = BV associated
&
Raised pH
Balanitis & Posthitis
candidal balanitis
- zoon’s balanitis aka plasma cell balanitis
- chronic inflamm 2º to overgrowth of commensal organisms
- impetigo
- s. aureus or strep pyogenes
Causes of genital symptoms
- pain syndromes
Causes of genital symptoms
- pain syndromes: -dynias
- vestibulodynia
- vulvodynia
- chronic pelvic pain syndrome
- dermatoses
- congenital
- traumatic
- neoplastic
- systemic disease
Causes of genital symptoms
- pain syndromes
R0=BcD
equation looking at reproductive number = avg number of infections produced
B = likelihood of transmission per encounter
c = rate of acquiring new partners
D = duration of infectivity
- If R0 >1 then epidemic is sustained
If R0 <1 then epidemic reduces
Assortative mixing
Some people have sex with people like them (similar lifestyle – eg IDU, same ethnicity)
leads to high prevalence within a subpopulation (core) but limited spread through the wider community.
Describe the role of genetic counselling ahead of/during pregnancy
stages of: pre-conception; early preg.; down’s; anomaly scan follow up; neonatal
Describe chromosomal disorders that can be tested for during pregnancy (eg Down’s syndrome)
Down’s Syndrome: AR
Sickle Cell: AR
PKU: AR
CF: AR
Fragile X: X Dom
Outline the role of the newborn bloodspot screening test
- sickle cell
- CF
- congenital hypothyr.
- PKU
- MCADD
- maple syrup urine dis.
What is PGR-M
Pre-implantation genetic testing is a technique used in reproductive medicine to
identify genetic defects in embryos created through in vitro fertilisation (IVF). Preimplantation genetic diagnosis (PGD) can be offered when one or both genetic
parents have, or are carriers of, a known genetic abnormality; testing is performed
on their embryos to determine whether the embryo is at risk of genetic disease.
Forms of pre-natal testing
Maternal blood test (non-invasive)
- excellent for. trisomies, high false neg, low false pos.
CVS
Amniocentesis
PUBS - Percutaneous umbilical blood sampling
Forms of Early Detection
a
What is aneuploidy
Having missing or extra chromosomes is a condition called aneuploidy. The risk of having a child with an aneuploidy increases as a woman ages. Trisomy is the most common aneuploidy. In trisomy, there is an extra chromosome.
B
B
