6What is the diagnosis?What is the recurrence rate?What advice would you give for future pregnancies?
7AnencephalyNeural tube defects (NTDs) result from failure of the neural tube closure between 25 and 27 days after conception.Absence of brain and calvaria superior to the orbits on coronal views of the fetal headUp to 75 percent of anencephalic infants are stillbornRisk of recurrence for NTDs (spina bifida or anencephaly)- 2 to 4 percent with one affected sibling- 10 percent with two affected siblingHigher doses of folic acid supplements are usually recommended for women who have had a previous pregnancy affected by a NTD
11Differential diagnosis physiologic bowel herniationumbilical herniagastroschisisamniotic band syndromeexstrophy of urinary bladder and cloacapentalogy of Cantrellbody stalk anomaly
12Gastroschisis Mx –If associated malformations, offer karyotypingAntepartum fetal surveillanceDelivery at 39 weeks if no other indicationsFull thickness closure of abdo wall defectOmphalocele Mx –KaryotypingPlan delivery at a surgical centreIn the delivery room - cover the defect with gauze dressings soaked in thermally neutral sterile saline, cover the dressing with Saran Wrap, insert an orogastric tube to decompress the stomach, stabilize the airway to ensure adequate ventilation, and establish peripheral intravenous access.
14Identify the abnormality What are the commonly associated anomalies?What are the factors affecting prognosis?What is the antenatal management?
15Ventriculomegaly Associated anomalies Chiari malformations Neural tube defectsDandy Walker malformationsAgenesis of the corpus callosumGenetic syndromesFactors affecting prognosisUnilateral/BilateralSeverity
16Management Structural Survey Fetal karyotype Testing for infectious etiologies (cytomegalovirus [CMV] and toxoplasmosis)Fetal MRI for isolated ventriculomegaly in which the etiology is unexplained.A follow-up ultrasound examination to assess progression or regression
18What is the abnormality? What are the associated abnormalities?What are the prognostic factors?What is the antenatal management plan?
19Congenital Diaphragmatic Hernia Herniation usually occurs on the left (80 to 85 percent); right- sided diaphragmatic hernias occur in only 10 to 15 percent of cases. Bilateral herniation is rare.Associated anomalies –Neural tube defects - anencephaly, myelomeningocele, hydrocephalus, and encephalocelesCardiac defects - VSD, vascular rings, and coarctation of the aortaMidline developmental anomalies- esophageal atresia, omphalocele, and cleft palateChromosomal anomalies - trisomies 18, 13, and 21, monosomy X, tetrasomy 12 p (isochromosome 12p), partial trisomy 5, partial trisomy 20
20Prognostic factorsAbnormal karyotypeAssociated anomaliesRight-sided defectLiver herniationLower fetal lung volumeManagementFetal karyotype,Fetal MRI to look for liver herniationEchocardiographySerial ultrasound examinations for fetal well being
21Indentify the abnormaility What are the associated anomalies2. Outline the management
26Describe the above images What are the risks associated with the pregnancy in 2nd image?How is TTTS diagnosed?What is the treatment for TTTS and the outcomes?What are the complications of laser ablation?
27Risks with MCDA twins Twin–twin transfusion syndrome (TTTS) – 10-15% Discordant malformationsDiscordant growth in the absence of TTTS (10%)Single fetal demiseNeurological abnormality in the surviving twin (18%)
28Diagnosis of TTTSOligohydramnios with maximum vertical pocket [MVP] less than 2 cm in one sac and polyhydramnios in other sac (MVP ≥ 8 cm)Discordant bladder appearances – severe TTTSHaemodynamic and cardiac compromise – severe TTTS.
29Treatment of TTTS laser ablation (61% survival rate) Amnioreduction SeptostomySelective feticidefewer deaths of both babies, fewer neonatal deaths and fewer perinatal deaths.More babies were alive without neurological abnormality at 6 months of age after laser ablation
30Complications of TTTS premature rupture of the membranes infection (chorioamnionitis)pregnancy lossiatrogenic donor intrauterine deathrecipient intrauterine deathpersistent diseasereverse transfusion