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Preconception counselling and lifestyle issues Preconception counselling should begin with a thorough history, including family and social background. Diseases that make a pregnancy high-risk should be discussed: Diabetes: women with T1DM have a higher incidence of foetal abnormalities and complications, e.g. foetal anomaly, foetal macrosomia, growth restriction and preterm labour. . Strict control of BSLs is very important in order to avoid these. Epilepsy: women with epilepsy have 3 times the risk of foetal structural anomalies. These women should be reviewed before conception in order to find the least teratogenic anticonvulsant regimen for them. Also, as many anticonvulsants are folate antagonists, these women are advised to take 5 mg/day of folic acid. Other chronic disease, e.g. renal, thyroid, heart disease, hypertension, asthma. Previous pregnancy problems, e.g. miscarriage, preterm labour, still birth. Diet: a well balanced diet is very important in pregnancy. Multivitamins and supplements may reduce abnormalities in pregnancy. Recommendations include: Folic acid supplements to reduce the incidence of neural tube defects. Supplements should be started before conception, 500 µg/day for a women who have never had an affected pregnancy, and 5 mg/day for women with a previously affected offspring. Soft cheese should be avoided due to the risk of Listeria infection from unpasteurised dairy products. Calcium intake should be maximised as pregnant women have a higher requirement for calcium. Caffeine-containing drinks should be kept to a minimum as a high intake of caffeine has been linked with reduced fertility and increased risk of miscarriage. Lifestyle issues: Birth and parenting education: cover information about pregnancy, labour, birth, breastfeeding and early parenting. Maternity leave: governmental leave, including unpaid leave, is usually 12 months and following this leave the employee may resume employment at the same level of seniority. Private organisations may have varying policies. Other entitlements may include maternity allowance, family payments, the baby bonus and paternity leave (usually 1 week). Seatbelts: should be worn with the lap band low on the abdomen and the shoulder harness between the breasts but not across the anterior abdomen. Air travel: in an uncomplicated pregnancy there is no reason to restrict travel, although airlines may have their own policies. Exercise: 30 minutes of moderate exercise per day is recommended in uncomplicated pregnancies. Occupational work: physically demanding work, prolonged standing, shift and night work, as well as exposure to toxic chemicals and radiation should be avoided. Sexual activity: only contraindicated when the membranes have ruptured prematurely or when antepartum haemorrhage has occurred, and advised against for a few days after threatened miscarriage. Weight: excessively low and high maternal weight should be avoided. Pets: Cats: there is a risk of catching toxoplasmosis, a parasite found in cat faeces, gardens cats frequent and raw/undercooked meat. It can cause severe neurological defects in the foetus. To minimise the risk, pregnant women should not change the kitty litter, should wear a mask and gloves while gardening and avoid undercooked meat. Dogs: the largest risk is dog bites once the baby is born. Reptiles/Amphibians: contact with the faeces of these pets can result in the transmission of salmonella. This is an important risk until the age of 5 years. Birds: may carry campylobacter, salmonella, chlamydiosis, or some protozoal infections. Farm animals: may carry listeria, campylobacter, salmonella or cryptosporidium. All animals: women should avoid leaving their babies alone with pets and should make sure they are flea and worm-free. Washing one’s hands after touching a pet is also important. Social issues: Support from partners, family and friends: lowers the risk of postnatal depression and anxiety. This is important throughout the pregnancy, during labour and postnatally. Women at particular risk (isolated women, single mothers, teenage mothers, those with a history of mental illness, and those required to work late in pregnancy) may require extra professional support. Antenatal care: women should be advised at the beginning of their pregnancy about the possible models of care they may access (e.g. midwifery care, obstetric care) and what would be most appropriate for them according to the level of risk of their pregnancy. References: Women’s Health: A Core Curriculum, http://www.americanpregnancy.org/pregnancyhealth/pets.html ANTENATAL SCREENING Weeks Visit st 1 trimester <7 1 (booking visit) Tests HCG (confirm pregnancy) Clinical assessment USS (> 5 weeks): o Gestational age/pregnancy dating (EDD) o Number of foetuses o Heart beat 7-12 2 FBE + Fe studies (Fe deficiency anaemia, Thalassemia) Blood group, Rh and antibodies Vitamin D Serology o Rubella o HIV o Hep B/C (HbsAg) o Syphilis (RPR/TPHA) o Consider: toxoplasmosis, CMV, VZV, pap smear MSU (for asymptomatic bacteriuria) Tests to be offered at this visit: o Maternal Serum Screening (MSS for Down Syndrome) – 10-12 weeks o Nuchal Translucency Scan (NTS done via ultrasound) – 12 weeks 2nd trimester (every 4 weeks) 12-20 3 Ultrasound Scan 18-20 week for fetal structural anomalies and placental localization Maternal Serum Screening (quadraple test) – Down Syndrome, NTD, Trisomy 18 Measure BP (pre-eclampsia), check uterine size 18-22 4 Measure BP, check uterine size Discuss blood sugar test for next visit 26-28 5 Complete blood sugar test (GDM) Measure BP, check baby’s heartbeat, size and position If Rh –ve, FBE & Rh antibodies, Anti-D injection (28-30 weeks) rd 3 trimester (every fortnight, then every week after 36 weeks 30-32 6 Measure BP, check baby’s movements, heartbeat, size and position 33-36 7 Measure BP, check baby’s movements, heartbeat, size and position FBE If Rh –ve, check Rh antibodies, Anti-D injection (34 weeks) 36-38 8 Measure BP, check baby’s movements, heartbeat, size and position Group B Streptococcus Screen (either urine sample or vaginal swab) Fetus: lie, presentation, degree of engagement of presenting part 38-40 9& Measure BP, check baby’s movements, heartbeat, size and position 10 Discuss signs of labour 40-42 10 & Measure BP, check baby’s movements, heartbeat, size and position 11 Discuss fetal monitoring, CTG and ultrasound if baby not delivered Discuss induction Possible vaginal examination Tests for Down Syndrome: 1. MSS: 14-20 weeks (sensitivity 60-75%) a. 10-14 weeks (FNT +/- PAPP-A, -HCG) – PAPPA is and HCG in DS b. 15-22 weeks (-HCG, AFP , unconjugated oestriol) c. 2. NTS: 11-13 weeks (sens 75-80%) 3. Diagnostic testing a. Chorionic villus sampling (CVS) - ≥10 weeks (1% chance of miscarriage) b. Amniocentesis ≥15 weeks (0.5% chance of miscarriage) c. Samples sent for cytogenetic analysis that allows rapid diagnosis of major aneuploidies for chromosomes 13,18,21 and XY Tests for Neural Tube Defect 1. MSS: 16-20 weeks (AFP) 2. US at 18-20 weeks 3. Amniocentesis after 15 weeks (to determine karyotype) Group B Streptococcus Vaginal swab or urine sample 35-37 weeks Risk of infant sepsis, neonatal deafness, cerebral palsy and death Indication for intra-partum chemoprophylaxis o Pre-term birth ≤37 weeks o ROM ≥18 hours prior to delivery o Maternal fever in labour >37.5 ˚C o PHx of GBS colonization o Previous infant with GBS o GBS bacteriuria Rx: o Chemoprophylaxis: penicillin ≥ 4 hours prior to delivery 1.2 gm IV benzyl penicillin loading dose, then 600 mg 4 hourly till delivery o Clindamycin 600 mg IV 8 hourly in labour or o Erythromycin 500 mg IV 6 hourly throughout labour Useful links RANZCOG Antenatal Screening: www.ranzcog.edu.au/publications/statements/C-obs3.pdf http://www.rcpamanual.edu.au/index.php?option=com_clinical&task=show_clinical&id=58&It emid=27&msg=396 CAUSES OF INFERTILITY (DAN) Main causes: o Reduced semen quality (40%) o Ovulatory disorders (30%) o Tubal problems (30%) Others: o Male: impotence, retrograde ejaculation, anti-sperm antibodies o Female: cervical factors, anti-sperm antibodies, severe endometriosis o Unexplained infertility COUNSELLING Detailed Hx & Ex of BOTH partners (including full social Hx) o Ask about frequency of sexual intercourse, timing (in regards to ovulation), technique, any problems, mood, feelings about infertility Male: o Hx: STDs, mumps, previous surgery (inguinal hernia repair, orchidopexy), drugs (antimitotic agents, β-blockers, excess alcohol) o Ex: Genitalia (size & consistency of testicles, presence of vasa deferentia and/or varicocoele Female: o Hx: Past reproductive Hx, RFs for pelvic infection (STDs, IUD, previous pelvic surgery), Sx of endometriosis (secondary dysmenorrhoea, dyspareunia) o Ex: Secondary sexual development, PID, endometriosis Lifestyle changes o Quit smoking, change drugs, reduce stress, weight loss (if BMI >29), exercise, folic acid INVESTIGATIONS Male: o Semen analysis: obtain sample after 3 days abstinence from ejaculation. Masturbate into wide-topped container. Must be brought to lab within 1 hr. Looks at sperm count, motility & morphology o Abnormal semen → serum FSH & testosterone Female: o Establish that ovulation is occurring regularly: use basal body temperature chart (0.3°C rise in temp between follicular and luteal phase). Serum progesterone 7 days following expected ovulation also detects ovulation o Tubal patency: Hysterosalpinography: introduction of radio-opaque material through the cervix into the uterux & fallopian tubes Looks at intrauterine anatomy & tubal patency Can be done as outpatient procedure, but can be painful Laparoscopy with dye instillation ± hysteroscopy Performed under general anaesthesia Infertility and subfertility Mx Couples should try (properly) for 12 months before further investigations o Timing sexual intercourse o o The most important factor when trying to conceive is to have sexual intercourse during the woman’s fertile phase - that is, the five days leading up to ovulation and the day of ovulation itself. Try Billing’s method of natural family planning Diet, exercise levels, weight, cigarettes, alcohol are all modifiable to increase fertility Investigations o Semen analysis 3 days abstinence before sampling, sent to lab within an hour If abnormal, do serum FSH and testosterone levels o Ultrasound To assess female reproductive anatomy o Mid-luteal progesterone level (7 days post ovulation) >30nmol/L means ovulation happened o Hysterosalpingography Done as outpatient procedure, does not reveal pelvic abnormalities unless it’s in the fallopian tubes o Laparoscopy with dye instillation Done under GA, scope is introduced through periumbilical incision Endometriosis, adhesions, ovarian diseases can be observed Dye is introduced through the cervix and patency of the reproductive organ is observed – often hysteroscopy is done as well Treatments for females o Uterine Leiomyoma Depends on type Submucosal or polyp alters shape of the uterus and affects fertility and placenta attachment (miscarriage) Removal of these 2 types of fibroids through surgery (hysteroscopic myomectomy using diathermy) o Inducing ovulation with clomiphene citrate (SERM) given at day 2 of menstrual cycle or FSH injection For Polycystic Ovarian syndrome: FSH production is stimulated at the pituitary level Reduce –ve feedback of estrogen o Endometriosis Infertility is caused by adhesions and maybe interference on epithelium mobility, ovarian functions Endometriosis may also cause subfertility by causing more sperm binding to the ampullary epithelium thereby affecting sperm-endosalpingeal interactions Can try IUI (intrauterine insemination), IVF. Treating the disease will not affect fertility unless endometriosis is mild to moderate in severity. Treatments for males o In vitro fertilization with/without Intra-cytoplasmic sperm injection 2 injections FSH to stimulate follicles (growth is monitored using serum oestrogen blood test) Ovum is harvested using a needle and Ultrasound guidance Egg is fertilized in the lab and incubated for around 2 days until it has developed 2-4 cells The zygote is then transferred back into the womb (embryo transfer) using a small catheter o Testicular biopsy Mainly for obstruction causes of infertility Eg. Tube scaring or vasectomy o Intrauterine insemination for oligospermia Semen is washed to eliminate immotile sperms Sometimes an intramuscular injection (FSH) is given to stimulate ovulation If not, the female’s menstrual cycle is observed and the procedure planned to be done after ovulation References http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Conceiving_a_baby_tips?open http://www.bmj.com/content/321/7271/1259.full http://doctor.ndtv.com/photodetail/ndtv/id/7723/10_Tips_to_help_a_woman_conceive.html http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Infertility_male?open http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Infertility_female?open Women’s Health, A core curriculum, Finn et al. http://www.fibroidsecondopinion.com/fibroids-and-pregnancy/ http://emedicine.medscape.com/article/271899-treatment http://www.ecca.com.au/infertilityhttp://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/In_vitro_fertilisation http://www.monashivf.com/Services/Male_Factor_Treatment.aspx Amenorrhoea Definition Primary Secondary Condition in which girls fail to develop Cessation of menstruation for more than 6 secondary sexual characteristics by age 14 or months in a normal female reproductive age, fail to menstruate by age 16 not due to pregnancy Important Familial (late puberty) Hormonal dysfunction – very common Causes Turner’s syndrome Hyperprolactinemia Testicular feminisation syndrome PCOS Structural malformations Premature menopause Causes of secondary amenorrhoea (if Pregnancy established before menarche) Intra-uterine adhesions Developmental history Developmental history Family history Menstrual, contraceptive, reproductive As for secondary where relevant History Examination Hx Menopausal symptoms ↑Weight loss, exercise, stress Psychological history Family history General appearance, height/weight Virilising signs or galactorrhoea External 2◦ sexual characteristics Visual field disturbance, papilloedema Abdominal exam, ?internal genitalia Pelvic exam – outflow tract As for secondary where relevant abnormality, atrophic effects of hypooestrogenism Investigations Treatment 1 Karyotyping B-HCG to exclude pregnancy Pelvic ultrasound (structure) Hormone tests Hormone tests Progestogen challenge As for secondary where relevant Pelvic ultrasound Aim to where possible, help patient look Depends on cause normal, function sexually and reproduce if she If low oestrogen – OCP or HRT1 wishes Normal/high – treat as for PCOS Given cyclically can restore normal menstrual rhythm; also important for progection against osteoporosis Causes Cause Description Hypothalamic/ Stress, ↑ weight loss or Upsets control of the menstrual cycle anovulatory Pituitary excessive exercise cycles Prolactinoma (or other May present with galactorrhoea, mass effect cause of ↑prolactin) MRI to detect adenoma if high PRL levels (>1000pmol/L) Treat with bromocriptine/cabergoline or surgery for tumour Some drugs can also cause raised PRL Ovarian Post-pill amenorrhoea Persistence of negative feedback to pituitary Sheehan’s syndrome Post-partum pituitary necrosis (rare) Kallman’s syndrome Chronic GnRH deficiency (rare) Premature menopause Responsible for 1% Stock of functional primary follicles is exhausted and normal follicular development fails despite pituitary producing increased amounts of FSH and LH PCOS Very common Turner’s syndrome (XO) Most common cause of gonadal dysgenesis - ovaries fail to develop failure of development of secondary sexual characteristics Testicular feminisation Ovaries are absent but primitive testes are present syndrome Other Autoimmune conditions, Swyer’s syndrome2, tumours (e.g. adrenal or ovarian) Uterine Pregnancy Must exclude! Asherman’s syndrome Uterine adhesions preventing endometrial proliferation (e.g. after over-vigorous curettage, or with TB) Structural malformations Includes Mullerian agenesis, absent/rudimentary uterus, imperforate hymen (apparent primary amenorrhoea) 2 XY gonadal dysgenesis Hormone Tests B-HCG o First priority – exclude pregnancy TFTs o Hyper and hypothyroidism can cause period irregularities o Hypothyroidism may indicate pituitary failure ↑TRH ↑PRL FSH and LH o Raised in ovarian failure (especially FSH) o Raised in PCOS (especially LH) o Low with stress, weight loss, excessive exercise (may be normal if mild) Testosterone o Raised in PCOS o High with androgen secreting tumours (>5nmol/L) Oestrodial o High in pituitary tumours o Low with ovarian failure or problem at hypothalamic or pituitary level Prolactin o Increased by stress, prolactinoma, drugs Progestogen Withdrawal Test Give progestagen for 5 days then stop o Positive test (normal response) is menstruation on withdrawal o Normal hormone levels and negative test suggests outflow tract disorder or low endogenous oestrogen o Normal hormone levels and positive test suggests anovulation If withdrawal test negative, give oestrogen for 21 days followed by progesterone for 5 days then stop o Negative test suggests outflow tract abnormality o Positive test suggests HPO axis issue Polycystic Ovarian Syndrome Generally speaking, it is a syndrome characterised by multiple small cysts in the ovaries, and an overproduction of androgens by the ovaries. (The cysts are eggs that have failed to mature and be released) Definition Rotterdam criteria (2003)*: After exclusion of related disorders, any 2 of: 1. Oligomenorrhoea or anovulation 2. Clinical or biochemical androgen excess 3. Polycyctic ovaries “Hirsutism + menstrual disturbances, most likely have PCOS” (Kumar and Clark 2005) Hence patients may clinically present with: 1. Oligomenorrhoea (30-50%) 2. Amenorrhoea (19 – 51%) 3. Hirsutism (64 – 69%) 4. Obesity (35 – 41%) 5. Elevated serum LH (40 – 51%) 6. Elevated testosterone (29 – 50%) 7. Subfertility (up to 75%) 8. Also acne (30%), alopecia (5%), acanthosis nigricans (<1-3%) Epidemiology Up to 20-25% of women have polycystic ovaries (on U/S) Polycystic ovarian syndrome affects around 5-10% of women of reproductive age** Commonest endocrine disturbance affecting women Women with PCOS increased risk of DM, dyslipidaemia, and possibly HT... hence higher cardiovascular risk. Patho-physiology Aetiology and pathogenesis poorly understood. Insulin resistance (due to complex genetic causes) is increasingly thought to be important. Resulting hyperinsulinaemia causes overproduction of ovarian androgens (insulin and LH synergistically work to activate the ovarian production of androgens) and a decrease in serum sex-hormone-binding globulin (SHBG) (insulin suppresses its hepatic production) – leading to high serum-free testosterone. Excess androgen interferes with follicular growth and ovulation, causing menstrual problems and infertility. Also leads to hirsutism, acne, alopecia, etc. Excess androgens may also cause increased LH levels*** Insulin resistance increase chance of developing obesity. Investigations Elevated serum testosterone levels Decreased SHBG Elevated LH levels Elevated LH:FSH ratio Increased fasting insulin levels Ultra-sound: polycystic ovaries (more than 8 (or 12) cysts depending on reference) Treatment Symptom orientated: Obesity NB: weight loss has shown to improve ovulation and the ability to conceive. Apparently it is ‘notoriously difficult’ to achieve in women with PCOS. Lifestyle changes Metformin: may be effective in some women. Oligomenorrhoea/Amenorrhoea NB: women tend to be anovulatory, but have normal or high levels of oestrogen. Hence theoretical risk of unopposed oestrogenic stimulation of endometrium and increase in risk of endometrial cancer. NB: oligomenorrhoeic women tend to have infrequent but heavy bleeds as the endometrium that develops under the influence of oestrogen eventually becomes unsustainable and sheds. Oral contraceptives: establishes normal menstruation, often will help hirsutism and acne Hirstism Mechanical means – bleaching waxing, shaving, etc Metformin may help, according to a recent study. Spironolactone: anti-androgen drug that blocks androgen receptors. Can reduce sexual hair by 40-80%, but may take 6 months to take effect. Subfertility Clomiphene citrate (a SERM): can be used to induce ovulation in women with anovulatory cycles. Clomiphene resistance is common in women with high LH concentrations – use IVF or other means. Long term management Increased risk of developing DM and CVD (promote good lifestyle) Screen for glucose intolerance and dyslipidaemias NOTES *: 1990 NIH criteria also exists. It doesn’t have polycystic ovaries as a criterion. **: 2005 study showed that in Melbourne, the prevalence may be up to 12% ***: according to PCOS association of Australia REFERENCES 1. PCOS association of Australia INC. <http://main.posaa.asn.au/> 2. Gynaecology by ten teachers 3. Womens health a core curriculum The 2 main differentials for bleeding in early pregnancy: 1) Ectopic pregnancy Clinical Features Abdominal/pelvic pain Delayed period (when the woman doesn’t know she’s pregnant) Vaginal bleeding Shock (if ruputured) – pallor, tachycardia and hypotension Peritonism Cervical excitation Diagnosis Serial bHCG – >1500 IU/ml Transvaginal Ultrasound Scan o showing no intrauterine gestation sac o free fluid in the Pouch of Douglas and adnexal mass on TVS Progesterone over 25ng/mL suggests pregnancy Management Methotrexate o Only in asymptomatic patients, small tube ectopics, non-tubal ectopics and relatively low bHCG o It is an antimetabolite that interferes with DNA synthesis Laparoscopy – preferred if it is not an emergency Salpingectomy (more preferred) or salpingostomy o Removing the whole fallopian tube or incising it to remove the POC If in shock – open laparotomy for greater vision and IV access for crossmatch and fluids Cervical pregnancy – embolization, Foley catheter tamponade and suction curettage Always give non-sensitised Rh- women with 250IU of anti-D IgG within 72h 2) Miscarriage Definition and incidence Is defined as expulsion of products of conception before 20w of gestation (Australia) or 24w (outside Australia) Spontaneous miscarriage happens in 20% of pregnancies and most common cause is sporadic chromosomal abnormalities Incidence of miscarriage for women aged 35-40 is 21% and 40% for over 40. Types Types Clinical features Threatened PV bleeding, contractions and abnormal vaginal discharge Inevitable Similar with lower abdominal pain. “Balooning of the LUS” Complete Incomplete Inevitable features Increasing cramping lower abdominal pain with some POC Missed Usually none Septic Similar to inevitable with malaise and fever Explanation Cervical dilatation is minimal and membranes are intact. The baby is still alive External os dilatation >3cm, internal os is closed and membranes have ruptured. POC has not been passed yet Cervical os is closed but the uterus is empty Internal os is open and POC is evident in the canal. But some are still retained and ERPOC is required Diagnosed normally in first trimester, where the US shows no foetal heartbeat. Cervix is normally closed and SFH is less than expected “Blighted ovum” appearance (no foetal pole) Investigations Urine MSU – for infection Cervico-vaginal swab FBE (anaemia and leukocytosis) Blood group for rhesus negative Ultrasound: to confirm viability and AFI Management Expectant management in the first trimester (but may need surgical evaluation) Anti-D IgG (250IU) within 72h Antibiotics if there is infection – erythromycin ± metronidazole or clindamycin for 7d For complete miscarriage, serial bHCG is needed for confirmation For threatened miscarriage, follow up bHCG is needed to confirm viability of pregnancy ERPOC – only for those who have heavy bleeding or prefer to remove it Examination of the POC – for trophoblastic disease or ectopic pregnancy For cervical incompetence, provide cervical cerclage Other differentials: 3) Intrauterine fetal demise/ Fetal death syndrome / stillbirths a. Is defined as death of a baby in the uterus, during pregnancy and before birth, after the 20th week of gestation. b. Known causes of stillbrith: i. bacterial infection ii. birth defects, especially pulmonary hypoplasia iii. chromosomal aberrations iv. growth retardation v. intrahepatic cholestasis of pregnancy vi. maternal diabetes vii. high blood pressure, including preeclampsia viii. recreational drugs contraindicated in pregnancy ix. postdate pregnancy x. placental abruptions xi. physical trauma xii. radiation poisoning xiii. Rh disease xiv. umbilical cord accidents 4) Molar pregnancy (Gestational trophoblastic disease) a. This is such a huge topic. We can discuss this on the next index case. 5) Postcoital bleeding (bleeding after sexual intercourse) 6) Trauma Sources: Women’s Health: Core Curriculum Obstetrics By Ten Teachers eMedicine Thalassaemia Hereditary (autosomal recessive) haemoglobinopathy Types ◦ thalassaemia minor – one allele of the gene is dysfunctional (carrier) ◦ beta thalassaemia major – severe anaemia (HbS) ◦ alpha thalassaemia major – Barts Hydrops (HbC) ▪ homozygous (major) may result in stillbirth, transfusion dependency, sickling syndromes or adverse maternal outcomes Most common in people of: ◦ mediterranean ◦ middle east ◦ africa ◦ asia ◦ polynesia ◦ subcontinent Screening usually offered to couples during first antenatal care visit Investigations ◦ FBE ◦ serum ferritin ◦ haemoglobin electrophoresis ◦ DNA analysis in alpha thalassaemia major Treatment ◦ beta thalassaemia minor – high dose folic acid (5mg daily) throughout pregnancy and lactation ◦ no iron supplement unless iron deficient (may have mild degree of iron overload) ◦ chronic blood transfusion therapy, iron chelation, splenectomy Neural tube defects 1-2/1000 live births (2nd most common fetal abnormality after cardiac) Prevalence declining due to natural reasons and increase in antenatal screening Failure of normal fusion of the neural plate to form the neural tube during the first 28 D Most women may not be aware they are pregnant then 1-2/1000 live births (2nd most common fetal abnormality after cardiac abnormalities) Having one affected foetus increased risk of 2nd affected foetus by 10-fold Women are encouraged to have peri-conceptual folic acid supplementation – those who have never had an affected pregnancy 500ug/day and those who have previously affected offspring 5mg/day. Failure to close at the cranial end: Anencephaly Failure of development of most of the cranium and brain. Affected infants are stillborn or die shortly after birth. Encephalocele Extrusion of brain and meninges through a midline skull defect Surgical correction but there are underlying cerebral malformations Failure to close at the caudal end: Spinal bifida occulta Failure of fusion of the vertebral arch. May be associated with overlying skin lesion e.g. tuft of hair, lipoma, birth mark, small dermal sinus, often in lumbar region Meningocele Vertebrae develop normally but meninges are forced through the vertebral spaces. Myelomeningocele An unfused section of the spinal column allows the spinal cord to protrude posteriorly in a sac enclosed by the meninges. The protruded portion of the spinal cord and the nerves at that level are not properly developed. Complications Paralysis Muscle imbalance which may cause dislocation of hips and talipes Sensory loss Bladder denervation Bowel denervation Scoliosis Hydrocephalus from Arnold-Chiari malformation (where the cerebellar tonsils herniated through the foramen magnum disrupting CSF flow) Termination – Indications and Interventions Indications: Psychiatric Severe neuroses Psychoses Medical Severe cardiac disease – heart failure Severe chronic renal disease – renal failure Malignant disease (esp. breast/cervix) Social Foetal Ze Viral infections Haemolytic disease Genetic defects Congenital defects incompatible with normal life (eg anencephaly, spina bifida) Techniques: Medical <9/40 Mifepristone (RU486) or methotrexate followed by misoprostol Misoprostol only Not available in Australia Induction of miscarriage o Misoprostol 100-200ug bd pv (4 doses) o Dinoprost pessaries o RU468/misoprostol Complications: Abortion Haemorrhage Incomplete abortion Uterine or pelvic infection Ongoing intrauterine pregnancy, requiring a surgical abortion for completion Misdiagnosed/unrecognized ectopic pregnancy Surgical D+C Suction curette STOP (D+E) o Vacuum/manual removal/curette Hysterotomy o Similar to LUSCS Smaller incision IDX (Partial-birth abortion) o Partial breech delivery o Evacuation of foetal skull Surgical specific Hematometra (blood clots accumulating in the uterus) Uterine perforation Cervical laceration Termination An estimated 80,000 - 90,000 surgical abortions are performed in Australia each year. This equates to approximately 250 per day, or one abortion for every 2.8 live births. One in three Australian women will have an abortion in their lifetime. Legal factors Abortion is legal in Victoria as determined in The Abortion Law Reform Act (2008). Abortion for any reason is an option up to 24 weeks gestation. Late-term abortions are legal but usually only done for severe foetal abnormalities. For a termination to occur after 24 weeks two doctors must agree and make the decision while considering all factors including: medical, physical, psychological and social. The act states the following obligation for health practitioners: if a woman requests a registered health practitioner to advise on a proposed abortion, or to perform, direct, authorise or supervise an abortion for that woman, and the practitioner has a conscientious objection to abortion, the practitioner must— refer the woman to another registered health practitioner in the same regulated health profession who the practitioner knows does not have a conscientious objection to abortion. Ethical factors Big question: When does life actually begin? - Conception Implantation ‘Quickening’ – when foetus moves into uterus (16-17 weeks) o Historically, from this time onwards abortion was illegal Tissue separation Brain activity Viability of the foetus Birth Arguments against abortion Killing people is wrong - Life begins at conception - A foetus is a person/potential person therefore are prematurely ending a person’s life Causing pain is wrong Increasing tolerance of killing is wrong - Not appreciating the sanctity of life Abortion sidesteps the oppression of women Megan Clancy - For a woman who is raped, starving or in a relationship who gets pregnant – the problem is not that they got pregnant, it’s the other thing Arguments for abortion Not necessarily wrong to end an innocent person’s life: - Conjoined twins – operation to separate them may lead to death of one twin - Mountaineering – one person can only save their own life but cutting the rope holding up a fallen colleague Pregnant women has rights too - Moral rights to ownership of her body and to decide her own future A foetus is not necessarily a person with rights, just a collection of cells Some cases where concern for maternal health must override concern of survival of the foetus. Religion Most religions strongly discourage/forbid abortion unless for very serious reasons. Catholicism and Sikhism believe life begins at conception. Some Buddhists are not opposed to abortion whereas others believe it is murder. Overall, abortion on demand is not acceptable in most religions. Support services - GP/family doctor Family Planning Victoria The Action Centre (for under 25s) Women’s health centre Genetic Health Services Victoria http://www.bbc.co.uk/ethics/abortion/ http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Abortion_in_Australia Breaking Bad News 1. Preparation: a. Privacy and adequate time. b. Patient comfort. c. Be prepared, e.g. have results ready etc. 2. Set the scene: a. Summarise what has happened to date. b. Ask what patient is thinking/feeling. c. Negotiate agenda of consultation. 3. Sharing information: a. Assess patient’s understanding. b. “Warning shot”. c. Provide information simply and honestly (VERY important), avoid jargon and give information in small chunks. 4. Be sensitive to the patient a. Encourage patients to express their feelings and acknowledge and respond to this. b. Look for non-verbal cues. c. Pause for questions. d. Allow time for patient to stop listening. e. Check patient’s understanding. 5. Planning and support: a. Give broad timeframe of what lies ahead. b. Assist in prioritising patient concerns. c. Plan what happens next. d. Work together. e. Discuss treatment options. 6. Follow up and closing: a. Summarise consultation. b. Arrange review. c. Provide information on support services and provide written material. d. Offer assistance to tell others. 7. Document consultation in patient record.