Fetal and neonatal Flashcards

Question

X-linked recessive - what is it - examples

Answer 1

Usually only manifest in males Females can occasionally exhibit if: - Homozygous for mutant allele - Women have a single chromosome (e.g. Turner syndrome) ``` Becker's muscular dystrophy Haemophilia A and B Duchenne muscular dystrophy Fragile X syndrome Red-green colour blindness ```

Answer 2

20y 1 in 1,500 30y 1 in 800 40 1 in 100 45 1 in 50 (or greater) Majority arise from non-disjunction in meiosis (>95%) - becomes more common with AMA Chance of recurrence 0.5-0.75% above background risk - Will significantly increase risk in younger, not older, women

Answer 3

Majority arise due to maternal non-disjunction in meiosis Trisomy 18 Incidence at birth 1 in 3000 - Higher at conception, but majority miscarry Risk increases slightly with each added year of maternal age

Answer 4

Omphalocele Abnormal posturing of the hands Megacystis Abnormal four-chamber view of the heart IUGR Polyhydramnios Congenital heart disease (up to 80%) Majority die within first year (90-95%)

Answer 5

Trisomy 13 1 in 5000 Associated with increased maternal age Only 5% survive longer than one year

Answer 6

expansion or lengthening of the FMR1 gene on the X chromosome ``` Most common single gene cause of autism worldwide Causes: - Intellectual disability - Behavioural and learning challenges - Various physical characteristics ```

Answer 7

Suspected when no fetal stomach seen and polyhydramnios. If there is associated fistula then stomach may be seen 2/3 will have other associated abnormalities (part of VACTERL) Karyotyping should be offered

Answer 8

Double bubble and polyhydramnios on scan - distended stomach and duodenum Not usually detected at anatomy but in third trimester 30% chance of T21 and high incidence of other abnormalities

Answer 9

Free floating loops of bowel without a covering membrane Caused by right paraumbilical defect, thought to be related to vascular compromise during embryonic development Chromosomal abnormalities are rare Can be associated with IUGR (20%) and IUFD (10%) May have high AFP Good prognosis - 90-100% survival

Answer 10

Herniation of abdominal viscera into base of umbilical cord Covered with membrane Cord inserts in to the sac Worse prognosis Small omphalocele more likely to have chromosomal abnormalities 70-80% survival if isolated abnormality

Answer 11

``` Tertiary USS, exclude other anomalies Amnio - Recommended for omphalocele - Risk of chromosome abnormalities is low if isolated gastroschisis Consider discussing TOP for omphalocele ``` MFM & Paeds Surg input Serial USS - More intensive monitoring from 32 weeks for gastroschisis due to increased risk of stillbirth Intrapartum - Deliver in tertiary centre - Aim for vaginal birth - consider IOL at 37 wks for gastroschisis (due to risk of stillbirth) - Neither an indication for CS (unless large omphalocele) Paediatricians present - cover bowel - NG - IV fluids and antibiotics - NBM

Answer 12

Increased brightness of the fetal bowel on second trimester USS echogenicity similar to or greater than that of adjacent fetal bone 1% at second tri Common finding in third - Reflects normal fetal physiology - meconium is present in the colon and can be echogenic

Answer 13

If isolated finding, prognosis usually good - 80-90% normal ``` Some types of aneuploidy - T21 Cystic fibrosis Intra-amniotic bleeding, e.g. post-amniocentesis, placental abruption CMV Toxo IUGR Primary GI pathology ```

Answer 14

``` Detailed fetal USS by MFM MFM referral History Offer CF carrier screening Maternal serologies for CMV, toxoplasmosis Fetal genetic assessment with cfDNA Offer amniocentesis for genetic testing - Echogenic bowel is present as an isolated finding in 4-25% of fetuses with aneuploidy ``` Pregnancy monitoring - Monthly growth scans - Presence of echogenic bowel (both isolated and when present with other anomalies) has been associated with IUGR and IUFD

Answer 15

Congenital defect in diaphragm causing herniation of abdominal viscera into chest 90% will be left posterior 20% risk of aneuploidy so should offer amniocentesis 28% has associated cardiac anomaly Overall survival is 30-70% Morbidity and mortality depends on pulmonary hypoplasia and pulmonary artery hypertension

Answer 16

Majority are small and do not cause problems for the fetus Prognosis without hydrops is 100% survival No need for chromosome testing if isolated MFM to assess size

Answer 17

Multi-septate fluid in soft tissues due to lymphatic drainage issue Usually seen in neck Associated with T21, 18 and Turners High fetal loss rate 80-90%

Answer 18

Ulcerative inflammation of the intestinal wall Onset typically during first several weeks after birth High mortality in premature infants - Up to 40%

Answer 19

Clinically defined syndrome of disturbed neurological function within the first week of life, manifested by difficulty in initiating and maintaining respiration, depression of tone and reflexes, subnormal level of consciousness and often seizures (PMMRC)

Answer 20

NE + convincing evidence of ante- or intra-partum hypoxia

Answer 21

15-20% of neonates born <32/40 Uncommon in term infants Predisposing factors: - Ischaemia / reperfusion - Fluctuations in cerebral blood flow - Increase in the cerebral venous pressures Risk factors ``` Maternal: - Infection / inflammation - Haemorrhage Lack of AN steroids External factors: - Mode of delivery - Neonatal transport ```

Answer 22

80% of NTDs Defect only covered by a membrane or, rarely, nothing at all Myelomeningocele (spina bifida) - varying degrees to neurological impairment, depending on the level - Can impair cognitive function, depending on associated ventriculomegaly or associated genetic syndrome Meningocele Myelocele Encephalocele Anencephaly - Absence of brain and lack of the cranial vault

Answer 23

The risk of recurrence for isolated NTDs is approximately 2-4% with one affected sibling - With two affected siblings, the risk is ~10% ``` Folate deficiency Genetic factors Syndromes - 5-7% rate of aneuploidy Amniotic bands Fever / hyperthermia in the first trimester Pre-gestational diabetes Poorly controlled DM has been associated with NTDs Obesity - 2-fold increased risk Sodium valproate Alcohol ```

Answer 24

U-shaped vertebrae Cystic sac may be visualised if myelomeningocele Fetal head findings - Lemon sign - Banana sign - Hydrocephaly May have obvious disruption of the fetal skin contours Arnold-Chiari type II malformation = Presence of both indirect cranial findings and a spinal defect

Answer 25

Small fluid-filled structure within the choroid of the lateral ventricles of the fetal brain Common sonographic finding during the second trimester - Usually small (<1cm), sonolucent, well-defined borders Isolated choroid plexus cysts are considered a variant of normal Fetuses with choroid plexus cysts and additional anomalies are at increased risk of chromosomal abnormalities, especially trisomy 18

Answer 26

Group of disorders that can involve brain and nervous system functions such as movement, learning, hearing, seeing, thinking Permanent Non-progressive - although clinical expression may change over time as the brain matures

Answer 27

2 cases per 1000 live births Incidence decreases with increasing gestational age - 25% of all cases of CP born at <34/40 Increases with decreasing birth weight More than half of CP cases are born at term 0.1% at term 15% at 22-27 weeks 70% of CP is due to non-birth events , 10% is acquired after birth Perinatal hypoxia or ischaemia = <10% of CP in term or near term infants - Infants with CP caused by an acute intrapartum hypoxic-ischaemic event are more likely to have spastic quadriparesis or dyskinetic CP

Answer 28

GRade 1 = good prognosis and intact survival GRade 2 = 5% mortality, 25% neurological morbidity Grade 3 = BAD - >50% die, intact survival minimal

Answer 29

Lower body temp to 33-34 degrees for 72h, then slowly rewarm to normothermia Eligible if: - >36/40 - <6h old - Fulfil criteria related to both their condition at birth and their neurological status Total body cooling reduced the rate of neurodevelopmental disability in survivors

Answer 30

Almost exclusively a disease of prematurity deficiency of surfactant --> atelectasis, ventilation perfusion mismatch and hypoventilation Treatment - Antenatal steroids - Early use of CPAC - Early administration of surfactant - Once RDS is established, it typically runs its course over 7 days or so

Answer 31

Most common cause of respiratory distress in term infants Caused by delayed clearance of fetal lung fluid Self-resolving disorder - Usually within 24-72h Treatment = supportive Dx of exclusion

Answer 32

ESSENTIAL Fetal umbilical artery acidaemia - pH <7.0 or base deficit >12 mmol/L, or both Spastic quadriplegia or dyskinetic cerebral palsy Early onset of severe or moderate neonatal encephalopathy in infants of >34/40 Exclusion of other identifiable aetiologies - e.g. trauma, coagulation disorders, infectious conditions, genetic disorders SUGGESTIVE Apgar score of <5 at 5 minutes and 10 minutes CTG - Sudden and sustained bradycardia Early evidence of multi-organ involvement Early evidence of cerebral imaging abnormalities Sentinel hypoxic event intrapartum, e.g. cord prolapse

Answer 33

Indications: - Gestational age <30/40 - Early preterm birth is planned or expected within 24h - When birth is planned commence MgSO4 as close to 4h before birth as possible 4g IV bolus MgSO4 over 20 mins, followed by IV infusion of 1g per hour until the birth or for 24h Timing - Minimum of four hours before birth - However administer even if likely to delivery earlier as likely will still benefit Administer regardless of: - Plurality (number of babies in utero) - Reason at risk of PTB - Parity - Anticipated mode of birth - Whether or not antenatal corticosteroids have been given Do not delay urgent delivery for MgSO4 - e.g. APH, severe fetal distress Repeat doses - If PTB again appears imminent, and still <30/40, then can consider repeat dose at discretion of the attending health professional

Answer 34

Clinical diagnosis Respiratory distress syndrome is due to lack of surfactant Surfactant is a detergent-like lipoprotein produced by the fetal lungs from ~22/40 Reduces the surface tension within the alveoli, allowing the alveoli to remain open when the neonate initiates respiration From 34-36 weeks, adequate surface is usually present Without adequate surfactant, alveoli and respiratory bronchioles easily collapse due to high surface tension  atelectasis, ve ntilation perfusion mismatch and hypoventilation  hypoxaemia and hypercarbia

Answer 35

Reduced respiratory distress syndrome – 34% Reduced need for mechanical ventilation / CPAP Reduced perinatal death – 28% Reduced incidence of necrotising enterocolitis Reduced intraventricular haemorrhage – 45% Fewer infants having systemic infection within the first 48h of life

Answer 36

``` Initial resuscitation - Keep baby warm and dry Admit to NICU O2 therapy CPAP – continuous positive airway pressure - Helps keep the lungs / alveoli open Intubation and assisted ventilation with PEEP (positive end expiratory pressure) Administer surfactant ``` Consider - BSL monitoring +/- treatment of hypoglycaemia - Screen for infection +/- IV antibiotics

Answer 37

Significant reduction in CP/ moderate to severe CP / substantial gross motor dysfunction No significant effect on perinatal mortality 30% reduction in CP NNT 1 in 63 - Or 1 in 29 if <28/40 Increase in maternal hypotension and tachycardia / not other major outcomes

Fetal and neonatal Flashcards

(61 cards)