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Fetal Foot Measurement

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821. Ehlers-Danlos Syndrome

and ankle). Easily bruised skin/spontaneous ecchymoses. Minor criteria Foot deformities: broad/plump forefoot, brachydactyly with excessive skin; pes planus; hallux valgus; piezogenic papules. Leg oedema in the legs in absence of cardiac failure. Mild proximal and distal muscle weakness. Axonal polyneuropathy. Atrophy of muscles in hands and feet. Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly. Vaginal/uterine/rectal prolapse. clEDS is caused by a lack of tenascin XB (TNXB), which (...) -valvular problems (aortic valve, mitral valve). Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising. Joint hypermobility (generalised or restricted to small joints). Minor criteria Inguinal hernia. Pectus deformity (especially excavatum). Joint dislocations. Foot deformities: pes planus, pes planovalgus, hallux valgus. Vascular Ehlers-Danlos syndrome [ , , ] Vascular EDS (vEDS) is an autosomal dominant EDS caused by mutations in the genes coding for type III collagen

2008 Mentor

822. Centile Charts and Assessing Growth

on research evidence, UK and European Guidelines. You may find the article more useful, or one of our other . In this article In This Article Centile Charts and Assessing Growth In this article Current UK child centile charts (the UK growth charts) are available from the Royal College of Paediatrics and Child Health. There are charts for 0-4 years and 2-18 years [ , , ] . Centile charts show the position of a measured parameter within a statistical distribution. They do not show if that parameter (...) is normal or abnormal. They merely show how it compares with that measurement in other individuals. They are called centiles and not per centiles . If a parameter such as height is on the 9th centile, this means that for every 100 children of that age, 9 would be expected to be shorter and 91 taller. On the 25th centile, 25 would be shorter and 75 taller. Centile charts are very useful for plotting changing parameters such as assessing a child's height or weight over time, or head circumference

2008 Mentor

823. Benign Congenital Hypotonia

disorders have both central and peripheral origins to the hypotonia. Presentation The children present at birth as 'floppy babies' with generalised hypotonia. They may also have any combination of the following features: Accentuation of the spinal curve - eg, hyperlordosis. Abdominal protrusion. Flat feet when standing. Pes cavus - when not weight-bearing. Walking on tiptoe, Inability to walk on heels (common). Developmental delay, ie failing to meet gross motor milestones for sitting, standing (...) and walking. ± Muscle contractures (not before the age of 8 years). Joint hyperlaxity. Recurrent episodes of myalgia when using muscles. A full history should be taken from the parents of any child with hypotonia, looking for evidence of: Oligohydramnios or polyhydramnios. Birth trauma. Family history of hypotonia (found in 46%). [ ] Perinatal asphyxia. Infection and/or drugs taken by the mother during pregnancy. Mother's description of fetal movements. Examination This should include: [ ] Head

2008 Mentor

824. Antenatal Screening for Down's Syndrome

possible to measure it) the quadruple test can be taken between 14 + 2 to 20 + 0 weeks of gestation. This measures free beta-hCG, alpha fetoprotein (AFP), inhibin-A and unconjugated estriol (uE3) (see 'Serum markers for Down's syndrome', below). It is less accurate than the combined test. Once a screening test has been performed, the chance of the fetus having Down's syndrome is calculated using software that takes into account maternal factors such as age, weight and family origin, along (...) pregnancy . Nuchal translucency scanning Fetal nuchal translucency (FNT) screening uses ultrasound to measure the size of the nuchal pad at the nape of the fetal neck. It should be performed between 11 weeks + 2 days and 14 weeks + 1 day. Increased nuchal translucency reflects fetal heart failure; it is typically seen in any serious anomaly of the heart and great arteries and strongly associated with a chromosomal abnormality. In one study, 84% of karyotypically proven trisomy 21 fetuses had a nuchal

2008 Mentor

825. Carbon Monoxide Poisoning

inhalation too. Acute toxicity results from a single exposure but chronic carbon monoxide poisoning also needs to be recognised. The latter often results from a poorly serviced gas fire and the elderly are most at risk. Clinical features are nonspecific and so a high level of suspicion is required. The fetus is more vulnerable to carbon monoxide toxicity because of the natural leftward shift of the dissociation curve of fetal haemoglobin, a lower baseline PaO 2 , and levels of HbCO at equilibration (...) that are 10-15% higher than maternal levels. The neonate also has high levels of fetal haemoglobin. Presentation Low-level poisoning [ ] Early features The physical symptoms of carbon monoxide poisoning are subtle and low-level exposure may produce no abnormal physical signs. [ ] Symptoms are likely to be mild and may include nausea, subjective weakness, headache and poor concentration/memory. Carbon monoxide poisoning is likely to be suspected in circumstances where exposure to a source has taken place

2008 Mentor

826. Candidiasis

. Yellow-white scale on the surface (looks like curds). In the foot or hand web spaces - maceration (moist damaged skin) with a thick horny layer. There are different forms of cutaneous candidiasis: Intertrigo (skin fold infection). Candidal nail infections - chronic paronychia or onychomycosis. See separate article. Napkin dermatitis. . Chronic mucocutaneous candidiasis [ ] : A rare condition, usually beginning in childhood, with persistent and prolonged candidal infections of the skin and mucous (...) infection is suspected. There is no improvement after initial treatment. The patient is immunocompromised. Systemic treatment is considered. Look for an underlying cause if there is widespread or recurrent candidiasis (see 'Risk factors', above). Management [ ] General measures: avoid occlusion of skin, avoid obesity, keep skin dry, wash with emollients as soap substitutes and dry thoroughly after washing. First-line pharmacological treatment is usually a topical imidazole cream - eg, clotrimazole

2008 Mentor

827. Cleft Lip and Palate

closure is performed at 6-12 months. Further operations are performed to improve appearance. If there is a gap in the gums, a bone graft may be required. Recent advances in fetal (intrauterine) surgery using a fetal endoscopic technique, offer the prospect of scarless wound healing, and bone healing without callus formation. This allows for better or even normal maxillary growth. As the technique improves, the outcome for mother and fetus is improving. [ ] Complications Chronic glue ear. Hearing loss (...) ). Cleft lip may be unilateral or bilateral. It is due to a failure of fusion of the maxillary and medial nasal processes in the developing fetus. A partial cleft may be so small as to be considered a microform cleft. This may affect the orbicularis oris muscle and require reconstruction, so even if the defect looks minor, babies should be assessed by a craniofacial surgeon. Cleft palate (with or without cleft lip) Cleft palate condition occurs when the two plates in the base of the skull which form

2008 Mentor

828. Antenatal Examinations

pregnancies. It may also be part of the screening for fetal anomalies when the nuchal translucency is measured. Accurate gestational age assessment helps optimal antenatal care by, for example, reducing the need for induction of labour at >41 weeks. Crown-rump length is the best surrogate measure of gestational age in the first trimester. Pregnant women who present at or beyond 14 weeks of gestation should be offered an ultrasound scan to estimate gestational age using head circumference or biparietal (...) . If a fetus appears to be small or large for gestational age, this can be further assessed by ultrasound. After 36 weeks, palpate the abdomen for possible malpresentation and confirm with an ultrasound scan if suspected. NICE does NOT recommend: Routine fetal auscultation by Pinard or Doppler in low-risk pregnancies, although this may be done if it is reassuring to women and requested. It is also required if there is clinical need, to help confirm the fetus is alive. Routine fetal movement counting

2008 Mentor

829. Antenatal Mental Health Problems

are to prevent withdrawal syndrome and toxic opioid levels, both of which pose sizeable risk to the fetus, as well as reducing other potentially harmful behaviours (eg, risk of infection associated with injecting drugs) and increasing positive health behaviours (eg, attendance for antenatal care). Methadone maintenance programmes have been widely used in pregnancy and have been shown to result in improved maternal and fetal health. Fewer data are available for buprenorphine, but it offers similar benefits (...) ). Low-dose amitriptyline or chlorpromazine can be given if the problem is serious and chronic and does not respond to sleep hygiene measures. Electroconvulsive therapy This may be considered for pregnant women who have: Severe depression. Severe mixed affective states or mania in the context of bipolar disorder. Catatonia. It may be considered for pregnant women whose physical health or that of the fetus is at serious risk. Evidence is limited but the risks to mother and fetus appear low. [ ] Rapid

2008 Mentor

830. Antenatal Infections and their Consequences

. There are mild constitutional symptoms and occasionally joint pain in adults. Consequences If rubella is contracted within the first 11 weeks of pregnancy there is a 90% chance of the fetus being affected. This falls to 20% during weeks 11-16. In weeks 16-20 there is a slight risk of deafness and, after that, no increased risk. Fetal defects associated with fetal rubella syndrome include: General learning disability. Cataracts. Deafness. Heart defects. Intrauterine growth restriction. Inflammation (...) . Microphthalmia. Retinochoroiditis. Cerebral calcification. Mild disease: a small area of retinochoroiditis or slight cerebral calcification without signs of brain damage. Subclinical. Relapsing: retinochoroiditis as flare-ups can occur at any age - most cases in a previously intact retina. Management [ ] This is by a specialist. Spiramycin throughout pregnancy is used for fetal prophylaxis, with regular ultrasound examination of the fetus. Where infection is confirmed, pyrimethamine, sulfadiazine and folinic

2008 Mentor

831. Venous Thromboembolism In Pregnancy

there is an absolute contra-indication to anticoagulation) may benefit from placement of a temporary caval filter and, in those cases where there is limb or life-threatening embolus, a surgical embolectomy or thrombus fragmentation may be attempted. [ ] Anticoagulation is by far the most common treatment option. Heparin is the most frequently used drug, being non-toxic to the fetus (it does not cross the placental barrier). However, its main disadvantages are that it has to be parentally administered (...) and, in the long-term, may give rise to heparin-induced osteoporosis and thrombocytopenia. In some patients, it can also provoke a painful, localised allergic reaction on administration. Warfarin is the other treatment option in the postnatal patient but it must be avoided antenatally, as it is teratogenic and can also cause placental abruption and fetal/neonatal haemorrhage. In clinically suspected DVT or PE, treatment with unfractionated heparin or LMWH should be given until the diagnosis is excluded

2008 Mentor

832. Hypertension in Pregnancy

and European Guidelines. You may find the article more useful, or one of our other . In this article In This Article Hypertension in Pregnancy In this article Introduction Hypertensive disorders in pregnancy are a major cause of maternal, fetal and neonatal morbidity and mortality, both in developing and developed countries. Hypertension is the most common medical problem in pregnancy, complicating up to 15% of pregnancies and accounting for about a quarter of all antenatal admissions in the UK. Women (...) with hypertension in pregnancy have a higher risk of complications such as: Abruptio placentae. Cerebrovascular accident. Disseminated intravascular coagulation. The fetus has an increased risk of: Intrauterine growth restriction. Prematurity. Intrauterine death. Hypertension in pregnancy includes: Gestational hypertension - pregnancy-induced hypertension which develops after 20 weeks of gestation and may be either transient hypertension of pregnancy or chronic hypertension not identified until the latter half

2008 Mentor

833. Gestational Diabetes

if indicated) to women who have not given birth by this time. Consider elective birth before 40+6 weeks for women with GDM if there are maternal or fetal complications. Diabetes should not in itself be considered a contra-indication to attempting vaginal birth after a previous caesarean section. Explain to pregnant women with diabetes who have an ultrasound-diagnosed macrosomic fetus about the risks and benefits of vaginal birth, induction of labour and caesarean section. Postpartum care [ ] Women who have (...) during pregnancy [ ] . Many of the problems associated with GDM are common to established diabetes in pregnancy - hyperglycaemia promotes large-for-dates babies and is associated with adverse fetal and maternal outcomes. There is no agreement on the glycaemic threshold for these adverse outcomes - indeed, large studies have indicated a strong, continuous association of maternal glucose levels (below those diagnostic of diabetes) with increased birth weight, and significant associations with secondary

2008 Mentor

834. Growth and Failure to Thrive

and often involve problems with diet and feeding behaviour that usually respond to simple targeted advice. Only about 5% of young children whose weight/growth falters will have an organic root to the problem. More rarely, weight faltering may be associated with neglect or maternal mental health problems or addiction. Assessing normality When assessing growth in all children, both height and weight should be considered. Repeated measurements of height and weight showing changes of centiles on charts (...) are much more important than a single measurement. To diagnose weight and growth faltering, it is imperative to understand normal growth and variation. For example, it is normal for a baby to lose up to 10% of body weight in the first few days of life. This is rapidly regained but more slowly in breast-fed babies. Premature babies For premature babies a 'corrected age' should be used, based on time since birth minus degree of prematurity. Thus, a baby who was born 12 weeks previously at 32 weeks

2008 Mentor

835. Exomphalos and Gastroschisis

cause of abdominal wall defects. This starts with an accidental break in the inner amniotic membrane which results in the fetus being exposed to fibrous amniotic bands. The appearance may be similar to gastroschisis but a scan may demonstrate the atypical location of the defect and contiguity with amniotic membranes. Extrophy of the urinary bladder . This appears on a scan, in female babies, as a mass superior to the fetal genitalia. Serial scans subsequently fail to demonstrate the presence (...) be administered to prevent infection. Parenteral nutrition should be provided via a central venous line, the baby should be catheterised to measure urine output and digital examination should be performed to dilate the rectum. The gastroschisis sac will require temporary protection in a silo. Recently a spring-loaded silo has been used to good effect. [ ] Unlike exomphalos, evidence derived from a review of the literature is more definitive in finding no difference between immediate repair and delayed closure

2008 Mentor

836. Flying with Medical Conditions

below. Physiology during flight [ ] Modern aircraft are not pressurised to sea level equivalent. Cabin altitude equivalent is usually between 5,000 and 8,000 feet which means that there is a reduction in barometric pressure and a reduction in the partial pressure of alveolar oxygen (P a O 2 ). Sometimes during flight, although not usually for long periods, oxygen saturation levels can fall to around 90%. A healthy individual can usually tolerate this with no problems but it may not be the same (...) of the increased risk. The risk also increases significantly in the presence of other known risk factors for VTE (obesity, extremes of height, use of oral contraceptives and the presence of prothrombotic blood abnormalities). The absolute risk of VTE per flight longer than four hours in a cohort of healthy individuals was 1 in 6,000. Effective preventative measures will comprise phase II of the WRIGHT project. Risk factors for DVT include [ ] : Thrombophilia enhancing clotting activity. Recent major surgery

2008 Mentor

837. Female Infertility

restriction and even delayed reading ability (at least to the age of 7). [ ] Women who are trying to become pregnant should be informed that drinking no more than one or two units of alcohol once or twice per week and avoiding episodes of intoxication reduce the risk of harming a developing fetus. Excessive alcohol consumption impairs sperm quality in men and may affect fertility in women. [ , ] There is currently insufficient evidence for a strong association between excessive caffeine consumption (...) and poor pregnancy outcomes, including infertility. [ ] Illicit drugs should be avoided. Some have adverse effects on fertility or the fetus or both and, for most, the question of teratogenicity has not been adequately addressed. Cannabis can impair ovulation and cocaine can cause tubal infertility. There is also reason to be concerned about the effect these drugs may have in pregnancy. Sexual history Enquire about frequency of coitus (ideally two to three times a week) and any prolonged or recurrent

2008 Mentor

838. Gestational Trophoblastic Disease (GTD)

the chromosomes come from the mother and half from the father. In complete molar pregnancies , all the genetic material comes from the father. An empty oocyte lacking maternal genes is fertilised. Most commonly (75-80%) this arises from a single sperm duplicating within an empty ovum [ ] . Less often an empty ovum is fertilised by two sperm. There is no fetal tissue. In partial molar pregnancies , the trophoblast cells have three sets of chromosomes (triploid). Two sperm are believed to fertilise the ovum (...) at the same time, leading to one set of maternal and two sets of paternal chromosomes. Around 10% of partial moles are tetraploid or mosaic in nature. There is usually evidence of fetal tissue or fetal blood cells in a partial molar pregnancy. An embryo may be present at the start. An invasive mole develops from a complete mole and invades the myometrium. Choriocarcinoma most often follows a molar pregnancy but can follow a normal pregnancy, ectopic pregnancy or abortion, and should always be considered

2008 Mentor

839. Normal Labour

of established first stage of labour varies between women, first labours last on average 8 hours (unlikely ≥18 hours). Second and subsequent labours last on average 5 hours (unlikely ≥12 hours). However if the first stage does not appear to be progressing, the cause needs to be determined. Management [ ] Reassure and advise the patient on how her labour is progressing. Measure pulse hourly and temperature and blood pressure 4-hourly. Monitor frequency of contractions half-hourly The fetal heart rate (FHR (...) with regular contractions (when the fetal presenting part has descended into the true pelvis), or on admission to hospital with obvious signs of labour. The first stage ends when the cervix is fully dilated (10 cm). First stage can be divided into: Latent or quiet phase: Contractions are not particularly painful and at 5- to 10-minute intervals. Contractions become stronger with shorter intervals, although the cervix is still dilating relatively slowly, with membranes possibly breaking later in this phase

2008 Mentor

840. Patau's Syndrome

-trimester multiple marker screening (that which is currently offered for Down's syndrome screening) may also help to identify a fetus with trisomy 13 or 18. Markers can include maternal age, nuchal translucency measurement, pregnancy-associated plasma protein A (PAPPA) and human chorionic gonadotrophin (hCG). Ultrasound at that time may also show fetal anomalies. Second-trimester screening tests can be offered if the mother presents later. See the separate article for more details about second-trimester (...) findings may suggest trisomy 13 and subsequent cytogenetic studies may therefore be indicated. Findings include increased nuchal translucency, cardiac defects, neural tube defects, facial clefting, renal abnormalities and omphalocele A study from Kings College Hospital showed that at the 11- to 13(+6)-week scan, the measurement of fetal nuchal translucency and fetal heart rate and fetal examination for holoprosencephaly, exomphalos and megacystis can identify >90% of fetuses with trisomy 13 [ ] . First

2008 Mentor

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