Fetal Med Flashcards

Question

HYDRANENCEPHALY FU Delivery Prognosis Recurrence

Answer 1

FU - if preg continues - FU should be standard Delivery - standard unless Fetal head is >40cm cephalocentesis may be needed before vaginal delivery Prognosis - death in early infancy No increased risk of recurrence

Answer 2

Prev- 1 in 1300 fetuses at 12w USS- abnormalities from incomplete cleavage of the forebrain observed in the standard transverse section of the brain

Answer 3

Alobar Semilobar Lobar Syntelencephaly Labor holopreosencephaly is detectable at >or equal to 18w, the other 3 types can be detected in the 11-13w USS

Answer 4

-Chromosomal defects mainly tris 13 and 18 are found in >50% of cases at 12w gestation -Genetic syndromes are found around 20% fo cases Alobar and lobar holoprosen. Are associated with microencephaly and midfacial defects in 80% of cases

Answer 5

Investigations Detailed USS examination including neusosonography -invasive testing for karyotyping and array -fetal MRI may be useful for confirmation of diagnosis In cases of suspected lobar holoprosencephaly \ Prognosis Alobar and semilobar - usually lethal within the first year of life Lobar life expectancy may be normal but usually with severe developmental delay and visual impairment

Answer 6

Spina bifida Phocomelia Chondroidysplasia Intra-uterine amputation

Answer 7

1 in 1000 fetuses at 12w

Answer 8

USS diagnosis Systematic examination of each neural arch from the cervical to the sacral region , both transversely and longitudinally - site of open spina bifida - lumbo sacral 65% Sacral - 24% Thoracolumbar 10% Cervical 1% -open spina bifida is associated with the Arnold-chiari II malformation with caudal displacement of the brain stem and obliteration of the cisterna magna

Answer 9

Frontal bone scalloping in the skull - this in the lemon sign in spina bifida . Obliteration of the cisterna magna with either an absent cerebellum or abnormal anterior curvature of the cerebella hemispheres witch is the banana sign

Answer 10

Chromosomal abnormalities mainly Trisomy 18, Single mutant genes Maternal diabetes Ingestion of anti epileptic drugs - implicated in about 10% of cases Risk of non chromosomal syndromes is low Investigations- USS Fetal karyotyping in the presence of associated anomalies FU - USS every 4 weeks to monitor evolution of ventriculogmegaly. Possible kyphoscoliosis and development of talipes

Answer 11

Prognosis: • The 5-year mortality rate is about 35%, with 20% dying during the first 12 months of life • **About 25% of fetuses with spina bifida are stillborn** • The surviving infants usually have paralysis in the lower limbs and double incontinence; despite the associated hydrocephalus requiring surgery, intelligence is often normal • Recurrence: • Affected parent or one sibling: 5%. • Two affected siblings: 10%. • Supplementation of the maternal diet with folate (5 mg/day) for 3 months before and 2 months after conception reduces the risk of recurrence by about 75%

Answer 12

Prevalence: • 1 in 20,000 births. • General principles: • **In 50% of cases there are transverse reduction deficiencies of one forearm or hand without associated anomalies.** • **In 50% of cases there are multiple reduction deficiencies and in 25% of these there are additional anomalies of the internal organs or craniofacial structures.** • *Amputation of the upper extremity is usually an isolated anomaly, whereas amputation of the leg or bilateral amputations of all limbs are usually part of a genetic syndrome.* • Isolated amputation of an extremity can be due to amniotic band syndrome, exposure to a teratogen or a vascular accident

Answer 13

Prevalence: 0.62 per 100,000 live births worldwide • Hands and feet are present (may be normal or abnormal), but the intervening arms and legs are absent. • Can be isolated or associated with other congenital abnormalities

Answer 14

• **Roberts syndrome**: autosomal recessive; tetraphocomelia, bilateral facial cleft, micrognathia, hypertelorism, ear and nose malformations. • **Thrombocytopenia with absent radius (TAR) syndrome**: autosomal recessive; absence of radius bilaterally associated with thrombocytopenia, • **Grebe syndrome**: autosomal recessive disorder described in the Indian tribes of Brazil. Characterized by marked hypomelia of upper and lower limbs increasing in severity from affected than the upper extremities.

Answer 15

• 1 in 25,000 births.

Answer 16

Short limbs, short hands and fingers, large head with frontal bossing and depressed nasal bridge, and lumbar scoliosis. • Limb shortening and typical facial features become apparent >22w’ gestation

Answer 17

Detailed ultrasound examination. • Achondroplasia is due to a mutation in the FGFR3 gene and has **autosomal dominant inheritance pattern**. The diagnosis can be made by invasive testing or cfDNA analysis of maternal blood

Answer 18

Follow up: • Follow-up scans every 4 weeks to monitor growth of the fetal head. • Delivery: • Standard obstetric care and delivery. • Caesarean section if the fetal head circumference is >40 cm. • Prognosis: • Homozygotic type: lethal due to ** severe pulmonary hypoplasia**. • Heterozygotic type: intelligence and life expectancy are normal. Respiratory limitations due to small thorax and development of stenotic vertebral canal (peripheral neurologic deficits) may decrease the quality of life.

Answer 19

One affected parent: 50%. • If both parents are affected: 50% risk of heterozygous achondroplasia, 25% risk of homozygous achondroplasia and 25% chance of unaffected child. • De novo mutation: low recurrence risk.

Answer 20

In monosomy x and trisomy 18 Left or right side of heart is underdeveloped Management is paliation

Answer 21

Noonan’s syndrom or Williams syndrome

Answer 22

caused by the presence of the maternal autoantibodies **anti-Ro (SS-a) or anti-La (SS-B)**. Most mothers are asymptomatic. In fetuses with cardiac defects, CHB may present in the first trimester, whereas in cases of isolated, autoantibody-related CHB the condition usually presents in the second trimester.

Answer 23

The prognosis of complete heart block depends on the presence of cardiac defects, the ventricular rate and the occurrence of hydrops. Fetal hydrops is associated with a poor prognosis. No prenatal intervention, including maternal administration of steroids for those with autoantibodies or invasive fetal cardiac pacing, has been proven to be useful. Postnatal cardiac assessment is essential but only a minority of patients require early implantation of a pacemaker

Answer 24

Ultrasound diagnosis: • Hyperechogenic tumour in the fetal chest, usually presenting at >16 weeks’ gestation. Divided into solid or microcystic, macrocystic with one or more large cysts (>2 cm) and mixed with areas that are solid intermixed with areas containing multiple cysts <2 cm in diameter. • The lesion is unilateral in >95% of cases and usually involves one lobe or segment of the lung • Ultrasound diagnosis: • Hydrops is found in <10% of cases. • Polyhydramnios, due to compressed and obstructed oesophagus, may present at >26 weeks’ gestation.

Answer 25

Prevalence: • Unilateral: 1 in 2,000 births. • Bilateral: 1 in 5,000 births. • Unilateral: non-visualisation of one kidney with normal bladder and amniotic fluid. Colour Doppler demonstrates single renal artery. There may be compensatory hypertrophy of the contralateral kidney. • Bilateral: non-visualisation of the kidneys and bladder in combination with anhydramnios >17 weeks’ gestation. Failure to visualise renal arteries with colour Doppler. Adrenal glands assume discoid shape and move laterally and inferiorly. Small fetal chest, cardiac hypertrophy and talipes are seen

Answer 26

Associated abnormalities: • In the majority of cases, renal agenesis is a sporadic and isolated abnormality. • Chromosomal defects,** mainly trisomy 18**, are found in 1-2% of cases. • Associated syndromes are found in 10% of cases. The most common are: Fraser syndrome (autosomal recessive condition characterized by renal agenesis, laryngeal atresia, cryptophthalmos, syndactyly) and VACTREL association (vertebral and ventricular septal defects, anal atresia, tracheoesophageal fistula, renal anomalies, radial dysplasia and single umbilical artery), MURCS association (sporadic; hypoplastic or bicornuate uterus, renal agenesis or dysplasia, vertebral and rib abnormalities). • Investigations: • Detailed ultrasound examination. • Karyotyping in cases with additional abnormalities

Answer 27

Delivery: • Standard obstetric care and delivery. • Prognosis: • Bilateral is lethal, usually in the neonatal period due to pulmonary hypoplasia. • Unilateral has normal prognosis. In some patients there may be vesicoureteric reflux. Girls should have a pelvic ultrasound to look for abnormalities in the Müllerian structures postnatally. • Recurrence: • Non-syndromic: 3%. • In 15% of cases, one of the parents has unilateral renal agenesis and in these families the risk of recurrence is increased.

Answer 28

Can be Autosomal dominant and Autosomal recessive AD- Prevalence: • 1 in 1,000 people carry the mutant gene. • Clinical onset of this disorder is typically in the third to fifth decade of life. AR- • Prevalence: • 1 in 30,000 births. • The disease has a wide spectrum of renal and hepatic involvement and it is subdivided into perinatal, neonatal, infantile and juvenile types on the basis of the age of onset of the clinical presentation.

Answer 29

`AD- Ultrasound diagnosis: • The kidneys are enlarged and hyperechogenic, but smaller than in autosomal recessive disease. • Renal pelvises can be visualised. • Bladder and amniotic fluid volume are normal. Associated abnormalities: • The incidence of chromosomal abnormalities and genetic syndrome is not increased. • Associated with hepatic, pancreatic or ovarian cysts AR- Ultrasound diagnosis: • Bilaterally enlarged and homogeneously hyperechogenic kidneys. Usually found >24 weeks’ gestation. • Renal pelvises cannot be visualised. • Gradual onset of oligohydramnios from the second trimester. **Associated abnormalities**: • The incidence of chromosomal abnormalities and genetic syndromes is not increased. • Cystic fibrosis of the liver: the liver appearances are normal, despite the presence of cysts, portal fibrosis and proliferation of bile du

Answer 30

AD Investigations: • Detailed ultrasound examination. • Genetic testing: the disease is caused by mutations in the PKD1 gene (85% of cases) on chromosome 16p13.13 and PKD2 gene (15% of cases) on chromosome 4q13.23. Prenatal diagnosis in affected families can be carried out by first-trimester chorionic villous sampling. Follow up: • Ultrasound scans every 4 weeks to assess amniotic fluid volume. • Ultrasound examination of parents’ kidneys AR- Investigations: • Detailed ultrasound examination. • Genetic testing: the disease is caused by mutations in the PKHD1 gene on chromosome 6p21. Prenatal diagnosis in families at risk can be carried out by first-trimester chorion villous sampling (reliable prenatal diagnosis in 80% of affected families). • Follow up: • Ultrasound scans every 4 weeks to monitor growth and assess amniotic fluid volume.

Answer 31

AD- Prognosis: • In counselling affected parents with ADPKD, it should be emphasized that the prenatal demonstration of sonographically normal kidneys does not necessarily exclude the possibility of developing polycystic kidneys in adult life. • Dialysis and transplant are the treatment options when the pathology becomes symptomatic in the third to fifth decades of life. • Recurrence: • Risk of recurrence: 50% AR- Prognosis: • The prenatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. • The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplant. • Recurrence: • Risk of recurrence: 25%

Answer 32

1 in 1500 male fetuses Ultrasound diagnosis: • Urethral obstruction can be caused by urethral agenesis, persistence of the cloaca, urethral stricture or posterior urethral valves. • With posterior urethral valves, there is usually incomplete or intermittent obstruction of the urethra, resulting in an enlarged and hypertrophied bladder with varying degrees of hydroureters, hydronephrosis, a spectrum of renal dysplasia (echogenic renal parenchyma with peripherally placed cysts), oligohydramnios and pulmonary hypoplasia

Answer 33

• Associated abnormalities: • Chromosomal defects, mainly trisomies 21, 18 or 13, are found in about 10% of cases. • Other defects, mainly cardiac and gastrointestinal are found in up to 40% of cases. • Investigations: • Detailed ultrasound examination. • Amniocentesis for karyotyping or analysis of cfDNA from maternal blood. • Fetal therapy: • Decompression of the urinary tract has been achieved by ultrasound-guided insertion of suprapubic vesico-amniotic catheters and cystoscopic ablation of urethral valves. Although these techniques demonstrated the feasibility of intrauterine surgery, they did not provide conclusive evidence that such intervention improves renal or pulmonary function

Answer 34

Poor prognostic signs are: • The presence of bilateral multicystic or severely hydronephrotic kidneys with echogenic or cystic cortex; • Anhydramnios implying complete urethral obstruction; • High urinary sodium (more than 100 mg/dL), calcium (more than 8 mg/dL) and ß2 microglobulin (more than 40 mg/L). Delivery: • Place: hospital with neonatal intensive care and paediatric surgery. • Time: 38 weeks. • Method: induction of labor aiming for vaginal delivery. Prognosis: • Severe: high perinatal mortality due to pulmonary hypoplasia secondary to severe oligohydramnios. Even in those that survive, about 30% develop renal failure necessitating dialysis and / or transplantation before the age of 5 years. Recurrence: • Isolated: no increased risk of recurrence. • Part of trisomies: 1%

Answer 35

Prevalence: • 1 in 5,000 births. • Ultrasound diagnosis: • Female fetus: clitoromegaly with normal labia. • Virilized females with normal female karyotype and ovarian gonadal tissue. The causes include congenital adrenal hyperplasia (1 in 15,000), ingestion of androgens by the mother and maternal virilizing tumors. • Male fetus: micropenis, hypospadias, undescended testes, bifid scrotum. • Undervirilized males with normal male karyotype and testicular tissue. The causes include inadequate synthesis of testosterone or the presence of an androgen receptor defect. Ambiguous genitalia

Answer 36

Associated abnormalities: • Chromosomal abnormalities, mainly trisomy 13, triploidy and 13q syndrome, are found in a few cases. • The condition can be associated with genetic syndromes: • Smith-Lemli-Opitz syndrome: autosomal recessive; ambiguous genitalia, microcephaly, cardiac, renal and gastrointestinal defects, syndactyly and polydactyly. • WAGR syndrome: sporadic; Wilms tumor, aniridia (absence of the iris), geniturinary malformations, neurodevelopmental delay. • Other defects, mainly facial clefts and cardiac defects are often found

Answer 37

Investigations: • Detailed ultrasound examination. • Look for maternal signs of hyperandrogenism (acne, deep voice, development of hirsuitism during pregnancy) and enquire about ingestion of androgens during the first trimester and family history of ambiquous genitalia. • Determine genetic sex by invasive testing or cfDNA in maternal blood. • Families at risk of congenital adrenal hyperplasia: invasive testing for DNA analysis. • Cases suspected of Smith–Lemli–Opitz syndrome: amniocentesis and measurement of 7-dehydrocholesterol; high levels suggest the diagnosis

Answer 38

• Follow up: • In families with congenital adrenal hyperplasia, administering dexamethasone to the pregnant woman from 6 weeks’ gestation can minimize the effect of androgens on the genitalia and the developing brain. If the fetus is male, steroids should be discontinued. • Follow-up scans every 4 weeks to monitor growth and evolution of genitalia. • Delivery: • Standard obstetric care but delivery should be in a tertiary center. • Prognosis: • Treatment of a neonate with ambiguous genitalia should be performed by a multidisciplinary team, including geneticists, pediatric endocrinologists, and pediatric urologist. There is controversy concerning sex assignment and the need or not of reconstructive surgery. • Recurrence: • Congenital adrenal hyperplasia: 25%

Answer 39

Prevalence: • 1 in 2,500 births. • Most common intra-abdominal cyst in female fetuses. • Ultrasound diagnosis: • Unilateral, unilocular cyst, sometimes containing a ‘daughter cyst’, in the abdomen of a female fetus >26 weeks’ gestation. • If the cyst undergoes torsion (40% of cases) or hemorrhage the appearance is complex or solid. Rupture can result in ascites. • Large ovarian cysts (>6 cm in diameter) can cause polyhydramnios due to compression of the bowel

Answer 40

Associated abnormalities: • Most cases are sporadic and there is no association with chromosomal abnormalities. • A few cases are associated with genetic syndromes. The most common is McKusick - Kaufman syndrome (automosomal recessive; hydrometrocolpos, polydactyly, heart defects). • Other defects, mainly genitourinary (renal agenesis, polycystic kidneys) and gastrointestinal (esophageal atresia, duodenal atresia and imperforate anus), may be found. • Investigations: • Detailed ultrasound examination. • Follow up: • Ultrasound scans every 4 weeks to monitor the evolution of the cyst. If the cyst is >6 cm ultrasound guided aspiration should be considered

Answer 41

Delivery: • Standard obstetric care • Unusual to require planned birth • Prognosis: • The majority of cysts are benign and resolve spontaneously in the neonatal period. Surgery may be necessary if there is torsion. • Recurrence: • Isolated: no increased risk of recurrence.

Answer 42

• Prevalence: • Only bowel in the sac: 1 in 100 at 11 weeks’ gestation, 1 in 800 at 12 weeks, 1 in 2,000 at 13 weeks. • Liver in the sac: 1 in 3,500 fetuses at 11 to 13 weeks. • Ultrasound diagnosis: • Midline sac containing bowel and / or liver with umbilical cord at the apex. • High exomphalos may contain the heart (pentalogy of Cantrell). • Low exomphalos may be associated with cloacal abnormality and spina bifida (OEIS complex). • Exomphalos containing bowel only at 11-13 weeks resolves by 20 weeks in 90% of cases

Answer 43

Associated abnormalities: • Chromosomal defects, mainly trisomies 18 or 13, are found in 30- 50% of cases. • Genetic syndromes, mainly **Beckwith-Wiedemann syndrome**, are found in 10% of cases. • Defects in other systems, mainly cardiac, are found in 30-50% of cases. • Investigations: • Detailed ultrasound examination, including echocardiography. • Invasive testing for karyotyping and molecular testing for Beckwith-Wiedemann syndrome. • Follow up: • Ultrasound scans every 4 weeks to monitor fetal growth and

Answer 44

• Delivery: • Place: hospital with neonatal intensive care and paediatric surgery. • Time: 38 weeks. Earlier if there is evidence of poor growth or fetal hypoxia. • Method: induction of labour aiming for vaginal delivery. Cesarean section reserved for obstetric indications, such as breech presentation and for giant exomphalos (sac containing >75% of liver) to avoid rupture and haemorrhage. • Prognosis: • Isolated small / moderate exomphalos: survival >90%. • Isolated giant exomphalos: survival 80%. • Other defect: depends on defect, e.g. trisomy 18 is lethal. • Recurrence: • Isolated: no increased risk. • Part of trisomies: 1%. • Part of Beckwith-Wiedemann syndrome: up to 50%

Answer 45

• Prevalence: • 1 in 3,000 births. • **Increased risk in young women and in those with cocaine abuse**. • Ultrasound diagnosis: • Paraumbilical abdominal wall defect, usually to the right side, with associated evisceration of bowel, floating freely in the amniotic fluid with a normally inserted umbilical cord. • Associated abnormalities: • The incidence of chromosomal abnormalities and genetic syndromes is not increased.

Answer 46

Associated complications: • Bowel atresias or obstruction secondary to volvulus and/or ischemia at the hernial orifice in about 10-30% of cases. • Fetal growth restriction in 30-60% of cases. • Spontaneous preterm birth in about 30% of cases. • Fetal death in 2-4% of cases

Answer 47

Follow up: • Ultrasound scans every 4 weeks to monitor growth, amniotic fluid, fetal oxygenation (UA-PI, MCA-PI and DV-PI) and intra-abdominal bowel dilatation. • In fetuses with abdominal wall defects it is best to monitor growth through estimation of fetal weight by the Sieme formula which uses biparietal diameter, occipitofrontal diameter and femur length, rather than formulas using abdominal circumference

Answer 48

Delivery: • Place: hospital with neonatal intensive care and paediatric surgery. • Time: 38 weeks. Earlier if there is evidence of poor growth, fetal hypoxia or dilatation of intrabdominal bowel (>20 mm). • Method: induction of labor aiming for vaginal delivery. There is no good evidence that cesarean section is beneficial. • Prognosis: • Survival: >90% • Main cause of death: **short bowel syndrome**. • Recurrence: • 3%

Answer 49

Prevalence: • 1 in 3,000 births • Ultrasound diagnosis: • Small or ‘absent’ stomach in the presence of polyhydramnios >25 weeks’ gestation. • Oesophageal atresia may be suspected prenatally in only about 40% of cases because if there is an associated tracheoesophageal fistula (found in >80% of cases), the stomach may look normal

Answer 50

Associated abnormalities: • Chromosomal defects: trisomy 18 found in 20% of cases and trisomy 21 in 1% of cases. • Other defects, mainly cardiac, found in 50% of cases. • Tracheoesophageal fistulae may be seen as part of the VACTERL association (sporadic; vertebral and ventricular septal defects, anal atresia, tracheoesophageal fistula, renal anomalies, radial dysplasia and single umbilical artery). • Investigations: • Detailed ultrasound examination, including echocardiography. • Follow up: • Ultrasound scans every 2-3 weeks to monitor growth and assess amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening

Answer 51

• Delivery: • Place: hospital with neonatal intensive care and paediatric surgery. • Time: 38 weeks. • Method: induction of labour aiming for vaginal delivery. • Prognosis: • Survival is primarily dependent on gestation at delivery and the presence of other anomalies. For babies with an isolated tracheoesophageal fistula, born after 32 weeks' gestation without aspiration pneumonitis, postoperative survival is >95%. • Recurrence: • Isolated: no increased risk of recurrence. • Part of trisomies: 1%

Answer 52

Duodenal atresia • Prevalence: • 1 in 5,000 births. • Ultrasound diagnosis: •** ‘Double bubble’ **sign as a result of an enlarged stomach and duodenal cap. Usually found >24 weeks’ gestation. • Polyhydramnios >24 weeks’ gestation in 50% of cases

Answer 53

Duodenal atresia • Associated abnormalities: • Chromosomal defects, mainly trisomy 21, are found in 30% of cases. • Other defects, mainly cardiac, renal, vertebral, are found in 10-20% of cases. • Investigations: • Detailed ultrasound examination, including echocardiography. • Amniocentesis for karyotype and CGH array • Follow up: • Ultrasound scans every 2-3 weeks to monitor growth and assess amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening

Answer 54

Delivery: • Place: hospital with neonatal intensive care and pediatric surgery. • Time: 38 weeks. • Method: induction of labour aiming for vaginal delivery. • Prognosis: • Survival rate >95%. • Recurrence: • Isolated: no increased risk of recurrence. • Part of trisomy 21: 1%

Answer 55

Prevalence: • 1 in 4,000 births. • Ultrasound diagnosis: • Abdominal viscera herniated into the thorax through defect in the diaphragm with associated deviation of the heart from its normal position. • Bowel, stomach and / or liver in the thorax. • Left (80%), right (15%) and posterolateral or anterior retrosternal (5%). • Polyhydramnios at >26 weeks in most cases

Answer 56

• Associated abnormalities: • Chromosomal defects, mainly trisomies 18 or 13 and occasionally tetrasomy 12p or Pallister–Killian syndrome, are found in 20% of cases. • Genetic syndromes are found in 10% of cases. The most common is Fryns syndrome (autosomal recessive; anophthalmia, facial cleft, micrognathia, ventriculomegaly, diaphragmatic hernia). • Defects in other systems, mainly craniofacial and cardiac, are found in 20% of cases

Answer 57

• Investigations: • Detailed ultrasound examination, including echocardiography. • Amniocentesis for karyotyping (CVS not appropriate for Pallister–Killian syndrome) and array. • Assessment of severity is by measurement of contralateral lung area in a transverse section of the chest to head circumference ratio (LHR). The measured LHR is compared to the LHR in normal babies and the disease is classified as severe if the ratio is <25%, moderate if 26-45% and mild if >45%. • Ultrafast MRI may be useful for accurate assessment of the proportion of the liver found in the thorax

Answer 58

• Fetal therapy: • FETO (fetoscopic endoluminal tracheal occlusion). This involves the endoscopic insertion of an inflatable balloon into the trachea with consequent retention of fluid produced by the lungs which may stimulate lung growth. The balloon is inserted at 26 weeks’ gestation and removed endoscopically at 34 weeks. • Follow up: • Ultrasound scans every 4 weeks to monitor lung growth and amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening. • Risk of fetal death about 5%

Answer 59

Delivery: • Place: hospital with neonatal intensive care and pediatric surgery. • Time: 38 weeks. Earlier if there is evidence of poor growth or fetal hypoxia. • Method: induction of labour aiming for vaginal delivery. • Prognosis: • Part of trisomy 18: lethal. • Isolated: survival is <15% for severe disease, 50% for moderate disease and >90% for mild disease. • Morbidity in survivors includes developmental delay in up to 30% of cases (especially in those requiring ECMO), gastro-esophageal reflux in 50% of cases, and scoliosis in 10% of cases. • Recurrence: • Isolated: no increased risk. • Part of trisomies: 1%. • Part of syndromes: 25%

Answer 60

Prevalence: • 1 in 5,000 births. • Ultrasound diagnosis: • Multiple fluid-filled loops of the bowel in the abdomen >7 mm in diameter presenting >25 weeks’ gestation. • Distension of the abdomen with active peristalsis. • If bowel perforation occurs, transient ascites, meconium peritonitis and meconium pseudocysts may ensue. • Polyhydramnios >25 weeks’ gestation, especially in proximal obstructions

Answer 61

Associated abnormalities: • The incidence of chromosomal abnormalities and genetic syndromes is not increased. • Other bowel anomalies: malrotation, gastroschisis, duplication and meconium ileus. • 10% risk of cystic fibrosis (up to 90% in case of associated meconium peritonitis). • Investigations: • Detailed ultrasound examination. • Amniocentesis: **DNA studies for cystic fibrosis if both parents are carriers**. • Follow up: • Ultrasound scans every 2-3 weeks to monitor growth and assess amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening

Answer 62

Delivery: • Place: hospital with neonatal intensive care and pediatric surgery. • Time: 38 weeks. • Method: induction of labour aiming for vaginal delivery. • Prognosis: • The prognosis is related to the gestational age at delivery, the presence of associated abnormalities and site of obstruction. In those born after 32 weeks with isolated obstruction requiring resection of only a short segment of bowel, survival is >95%. Loss of large segments of bowel can lead to short gut syndrome, which is a lethal condition. • Recurrence: • Isolated: no increased risk of recurrence

Answer 63

Prevalence: • 1 in 800 pregnancies. • 1 in 8,000 live births. • Ultrasound diagnosis: • Bilateral symmetrical cystic structures located in the occipital-cervical region of the fetal neck. **They are differentiated from nuchal oedema by the nuchal ligament (midline septum).** • Cystic hygroma is caused by defects in the formation of the neck lymphatics. It is the most common form of lymphangioma (75% are located on the neck, 20% in the axillary region and 5% on the chest wall, abdominal wall and extremities)

Answer 64

Associated abnormalities: LOUDS WHICH IS WHY PPL USUALLY TERMINATE, USUALLY TURNERS AND NOONAS • Chromosomal abnormalities, mainly **Turner syndrome**, are found in about 50% of cases. • Genetic syndromes are found in about 40% of cases. The most common are** Noonan syndrome** (autosomal dominant but >90% are due to de novo mutations; cystic hygromas, hypertelorism, pulmonary stenosis, fetal growth restriction), Multiple-pterygium syndrome (autosomal recessive; cystic hygromas, contractures in all joints, microcephaly and micrognathia), Fryns syndrome (autosomal recessive; anophthalmia, facial cleft, micrognathia, ventriculomegaly, diaphragmatic hernia) and Neu-Laxova syndrome (autosomal recessive; hypertelorism, microcephaly, agenesis of corpus calosum, contractures in the upper and lower limbs, fetal growth restriction). • Hydrops (in addition to cystic hygromas there is generalized oedema, ascites, pericardial or pleural effusions) occurs in 60-80% of cases. • Investigations: • Detailed ultrasound examination, including echocardiography. • Invasive testing for karyotyping and arra

Answer 65

Follow-up: • Follow-up scans every 4 weeks to assess the evolution of the hygromas and development of hydrops. • Delivery: • Place: hospital with neonatal intensive care and paediatric surgery. • Time: 38 weeks, earlier if hydrops develops. • Method: Caesarean section if there is hydrops or large cystic hygromas preventing flexion of the head. • Prognosis: • Fetal death: 90%. • In 10% of cases the fetal karyotype is normal, there are no other obvious defects and the hygromas resolve during pregnancy. In these cases the prognosis is good. • Recurrence: • Isolated or part of Turner syndrome: no increased risk of recurrence. • Part of autosomal recessive syndromes: 25%

Answer 66

Prevalence: • 1 in 2,000 births. • Ultrasound diagnosis: • Abnormal accumulation of serous fluid in at least two of the following: skin (edema) and body cavities (pericardial, pleural, or ascitic effusions). • Placentomegaly (placental thickness >6 cm) is often present

Answer 67

Many causes but sometimes even after post mortem- no cause found Non-specific finding in a wide variety of fetal and maternal disorders, including hematological, chromosomal, cardiovascular, renal, pulmonary, gastrointestinal, hepatic and metabolic abnormalities, congenital infection, neoplasms, malformations of the placenta or umbilical cord and genetic syndromes. • Classically divided into: • Immune: 10% of cases and it is due to maternal haemolytic antibodies. • Non-immune: 90% of cases and it is due to all other aetiologies.

Answer 68

Fetal therapy: • Fetal anaemia: intrauterine blood transfusions. • Pleural effusions or large pulmonary cyst: insertion of thoracoamniotic shunts. • Fetal tachyarrhythmias: transplacental or direct fetal administration of antiarrhythmic drugs. • Teratomas, chorioangiomas, pulmonary sequestration: ultrasound-guided laser coagulation of feeding vessel. • Recipient fetus in twin-to-twin transfusion syndrome: endoscopic laser coagulation of the communicating placental vessels. • Follow up: • Scans every 2-3 weeks to monitor the evolution of hydrops. • There is a risk of maternal morbidity due to the **‘mirror syndrome’ **(combination of fetal hydrops with generalized fluid overload and a preeclamptic state in the

Answer 69

Delivery: • Timing and method of delivery depend on the cause of hydrops. • Prognosis: • Depends on the cause of hydrops. • Progressive unexplained hydrops is often lethal before or soon after birth. • Recurrence: • Fetal defects, infection: no increased risk of recurrence. • Part of trisomies: 1%. • Red blood cell isoimmunisation: high. • Metabolic disorders: 25%

Answer 70

Investigations: • In many instances, the underlying cause may be determined by maternal antibody and infection screening, fetal ultrasound scanning, including echocardiography, Doppler studies, fetal blood sampling and amniocentesis for karyotyping and array. • Often the abnormality remains unexplained even after expert post mortem examination.

Answer 71

• Prevalence: • 1 in 20,000 births. • Arises from undifferentiated neural tissue of the adrenal medulla (90%) or sympathetic ganglia in the abdomen, thorax, pelvis, or head and neck (10%). • Ultrasound diagnosis: • Cystic, solid, or complex mass in the region of the adrenal gland, usually in the third trimester. Occasionally, calcifications are present. • Tumors arising from the sympathetic ganglia may appear in the abdomen, thorax or neck. • The tumor can metastasize in utero to the placenta, umbilical cord or liver. • There may be associated polyhydramnios and fetal hydrops

Fetal Med Flashcards

(95 cards)