What is the diagnosis? What is the recurrence rate? What advice would you give for future pregnancies?
Anencephaly Neural 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 head Up to 75 percent of anencephalic infants are stillborn Risk of recurrence for NTDs (spina bifida or anencephaly) - 2 to 4 percent with one affected sibling - 10 percent with two affected sibling Higher doses of folic acid supplements are usually recommended for women who have had a previous pregnancy affected by a NTD
Differential diagnosis physiologic bowel herniation umbilical hernia gastroschisis amniotic band syndrome exstrophy of urinary bladder and cloaca pentalogy of Cantrell body stalk anomaly
Gastroschisis Mx – If associated malformations, offer karyotyping Antepartum fetal surveillance Delivery at 39 weeks if no other indications Full thickness closure of abdo wall defect Omphalocele Mx – Karyotyping Antepartum fetal surveillance Plan delivery at a surgical centre Delivery at 39 weeks if no other indications In 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.
Identify the abnormality What are the commonly associated anomalies? What are the factors affecting prognosis? What is the antenatal management?
Ventriculomegaly Associated anomalies Chiari malformations Neural tube defects Dandy Walker malformations Agenesis of the corpus callosum Genetic syndromes Factors affecting prognosis Unilateral/Bilateral Severity Associated anomalies
Management 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
What is the abnormality? What are the associated abnormalities? What are the prognostic factors? What is the antenatal management plan?
Congenital 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 encephaloceles Cardiac defects - VSD, vascular rings, and coarctation of the aorta Midline developmental anomalies- esophageal atresia, omphalocele, and cleft palate Chromosomal anomalies - trisomies 18, 13, and 21, monosomy X, tetrasomy 12 p (isochromosome 12p), partial trisomy 5, partial trisomy 20
Prognostic factors Abnormal karyotype Associated anomalies Right-sided defect Liver herniation Lower fetal lung volume Management Fetal karyotype, Fetal MRI to look for liver herniation Echocardiography Serial ultrasound examinations for fetal well being
Indentify the abnormaility 1. What are the associated anomalies 2. Outline the management
Describe the above images What are the risks associated with the pregnancy in 2 nd image? How is TTTS diagnosed? What is the treatment for TTTS and the outcomes? What are the complications of laser ablation?
Risks with MCDA twins Twin–twin transfusion syndrome (TTTS) – 10-15% Discordant malformations Discordant growth in the absence of TTTS (10%) Single fetal demise Neurological abnormality in the surviving twin (18%)
Diagnosis of TTTS Oligohydramnios with maximum vertical pocket [MVP] less than 2 cm in one sac and polyhydramnios in other sac (MVP ≥ 8 cm) Discordant bladder appearances – severe TTTS Haemodynamic and cardiac compromise – severe TTTS.
Treatment of TTTS laser ablation (61% survival rate) Amnioreduction Septostomy Selective feticide fewer 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
Complications of TTTS premature rupture of the membranes infection (chorioamnionitis) pregnancy loss iatrogenic donor intrauterine death recipient intrauterine death persistent disease reverse transfusion