Fetal Syndromes, Chromosomal Abnormalities, and Other Complications in Pregnancy

Severe generalized massive edema often seen with hydrops fetalis.

Anasarca

The presence of an abnormal number of chromosomes and is almost always associated with abnormalities of physical and cognitive development.

Aneuploidy

Inward curving of the fifth finger associated with Down syndrome.

Clinodactyly

Clinodactyly is associated with trisomy ____.

21 - Down syndrome

Abnormal outward bending or twisting of the elbow.

Cubitus valgus

Gravest form of pregnancy-induced maternal hypertension characterized by seizures, coma, proteinuria, and edema.

Eclampsia

A condition in which the ventral wall of the chest fails to close and the heart develops outside the chest.

Ectopia cordis

A condition where the skull is defective, causing exposure or extrusion of the brain.

Exencephaly

Demise of a twin that is too large to reabsorb.

Fetus papyraceus

Picture of chromosomes and how they look structurally.

Karyotype

Underdevelopment of the jaw, especially the mandible.

Micrognathia

Abnormal smallness of one or both eyes.

Microphthalmia

Congenital anomaly characterized by the presence of more than the normal number of digits.

Polydactyly

An abnormal condition characterized by the onset of acute hypertension after 24 weeks gestation. Classic triad includes maternal edema, proteinuria, and hypertension.

Preeclampsia

What is the classic triad for preeclampsia?

Maternal edema

Proteinuria

Hypertension

Preeclampsia is an abnormal condition characterized by the onset of acute hypertension after _____ weeks gestation.

24 weeks

Early rupture of the gestational sac with leakage of part or all of the amniotic fluid.

Premature rupture of membranes (PROM)

Onset of labour before 37 weeks gestation.

Preterm labour

Caused when the mother forms a corresponding antibody to the fetal blood, resulting in destruction of fetal red blood cells.

Rh disease

Increased distance between the first and second toes associated with Down syndrome.

Sandal toe deformity

Sandal toe deformity is associated with trisomy _____.

21 - Down syndrome

Overlapping of the cranial bones associated with fetal demise.

Spalding sign

Congenital anomaly characterized by the fusion of the fingers or toes.

Syndactyly

The arterial blood of the donor twin pumps into the venous system of the receiving twin.

Twin-twin transfusion syndrome (TTTS)

Chromosomal abnormalities can be either numeric or structural. 95% of chromosomally abnormal conceptions are _____ before term.

Lost

What is another name for Edward syndrome?

Trisomy 18

A clenched fist is often associated with which trisomy?

18 - Edward's syndrome

Is AFP affected with trisomy 18?

Yes - Decreased AFP

True or false:

Trisomy 18 has an overall good prognosis.

FALSE

Overall poor prognosis

Does trisomy 18/Edward's syndrome have a male or female prevalence?

Female

Edward syndrome/trisomy 18:

-80% of cases display a _____

-Decrease in _____

-Overall _____ prognosis

-95% spontaneously _____

-_____ prevalence

80% display a clenched fist

Decreased AFP (alpha-fetoprotein)

Overall poor prognosis

95% spontaneously abort

Female prevalence

The following sonographic findings are associated with which chromosomal abnormality?

-Cardiac defects (especially VSD)

-Choroid plexus cysts

-Clenched hands

-Micrognathia

-Clubbed or rocker bottom feet

-Cleft lip or palate

-Renal anomalies

-Omphalocele

-Spina bifida

-Cystic hygroma

-Diaphragmatic hernia

-Two-vessel cord

-Intrauterine growth restriction (IUGR)

Edward syndrome (trisomy 18)

List some of the sonographic findings associated with trisomy 18.

-Cardiac defects (VSD)

-Choroid plexus cysts

-Clenched hands

-Micrognathia

-Clubbed or rocker bottom feet

-Cleft lip or palate

-Renal anomalies

-Omphalocele

-Spina bifida

-Cystic hygroma

-Diaphragmatic hernia

-Two-vessel cord

-Intrauterine growth restriction (IUGR)

-Short ears

What is another name for Down syndrome?

Trisomy 21

Which of the trisomies is the most common?

Trisomy 21 (extra copy of chromosome 21)

What is the primary risk factor for trisomy 21?

Maternal age

Is AFP affected with trisomy 21?

Yes - decrease in AFP levels

What is the prognosis for down syndrome (trisomy 21)?

Coexisting anomalies dictate overall prognosis

Duodenal atresia is seen in 30% of trisomy _____ cases.

21 (down syndrome)

Down syndrome/trisomy 21:

-_____ in AFP levels

-Coexisting anomalies dictate overall _____

-Approx. 30% of cases demonstrate _____

Decreased AFP

Coexisting anomalies dictate prognosis

30% demonstrate duodenal atresia

The following sonographic findings are associated with which chromosomal abnormality?

-Subtle anomalies

-Atrioventricular defect

-Ventricular septal defect

-Nuchal thickening

-Small or absent nasal bone

-Macroglossia

-Mild ventriculomegaly

-Duodenal atresia

-Pyelectasis

-Hyperechoic bowel

-Nonimmune hydrops

-Sandal toe deformity

-Clinodactyly

-Low-set ears

-Shortened limbs

-Femur length below the 10th percentile for gestational age

-Small humeral length

Trisomy 21 (Down syndrome)

List some of the sonographic findings associated with down syndrome (trisomy 21).

-Subtle anomalies

-Atrioventricular defect

-Ventricular septal defect

-Nuchal thickening

-Small or absent nasal bone

-Macroglossia

-Mild ventriculomegaly

-Duodenal atresia

-Pyelectasis

-Hyperechoic bowel

-Nonimmune hydrops

-Sandal toe deformity

-Clinodactyly

-Low-set ears

-Shortened limbs

-Femur length below the 10th percentile for gestational age

-Small humeral length

What are 2 differential considerations for Edward syndrome?

Trisomy 13

Triploidy

Which trisomy is associated with low set ears?

Trisomy 21

What is the differential consideration for down syndrome/trisomy 21

Beckwith-Wiedemann syndrome

What is another name for Patau syndrome?

Trisomy 13 (extra 13th chromosome)

Which autosomal trisomy is the least common but the most severe?

Trisomy 13 (Patau syndrome)

Which trisomy is the "syndrome of midline defects"?

13 - Patau syndrome

What is the prognosis for Patau syndrome (Trisomy 13)?

Poor prognosis

90% of trisomy ____ cases display cardiac defects.

13

Trisomy 13 is associated with multiple anomalies, many involving the _____.

Brain

Patau syndrome/trisomy 13:

-90% of cases display _____ defects

-Syndrome of _____ defects

-Overall _____ prognosis

-Multiple anomalies, many involving the _____

90% display cardiac defects

Syndrome of midline defects

Overall poor prognosis

Many anomalies involving the brain

The following sonographic findings are associated with which chromosomal abnormality?

-Holoprosencephaly

-Microcephaly

-Cystic hygroma

-Absent or small eyes

-Facial clefts

-Cardiac defects

-Omphalocele

-Echogenic kidneys

-Diaphragmatic hernia

-Clubfoot

-Polydactyly

-IUGR

-Polyhydramnios

-Cutis aplsaia (protrusions of scalp)

Trisomy 13 (Patau syndrome)

List some of the sonographic findings associated with trisomy 13.

-Holoprosencephaly

-Microcephaly

-Cystic hygroma

-Absent or small eyes

-Facial clefts

-Cardiac defects

-Omphalocele

-Echogenic kidneys

-Diaphragmatic hernia

-Clubfoot

-Polydactyly

-IUGR

-Polyhydramnios

-Cutis aplsaia (protrusions of scalp)

Which trisomy is associated with holoprosencephaly?

13

What is the differential consideration for Patau syndrome/trisomy 13?

Meckel-Gruber syndrome

What is the term for three complete sets of chromosomes?

Triploidy (69 chromosomes)

69 XXY or 69 XXX

True or false:

Most triploidy cases will abort spontaneously.

TRUE

The following sonographic findings are associated with which chromosomal abnormality?

-Early onset IUGR

-Holoprosencephaly

-Hypertelorism

-Micrognathia

-Microphthalmia

-Ventriculomegaly

-Oligohydramnios

-Two-vessel cord

-Cardiac abnormalities

-Clubfeet

-Syndactyly

Triploidy

What are the differential considerations for triploidy? (2)

Trisomy 13

Trisomy 18

True or false:

Maternal age has no influence on the trisomies (13, 18, 21)

FALSE

Increased maternal age increases risk for trisomies.

Which syndrome is classically characterised by the absence of one X chromosome copy (45 XO), with the missing chromosome most frequently (two-thirds) being the paternal one? Most cases occur as a sporadic event.

Turner syndrome

However, the classic genetic change is not present in all cases. Three main subtypes include:

1) complete monosomy (45XO): ~60%

2) partial monosomy (structurally-altered X chromosome): ~15%

3) mosaicism (XO and another sex karyotype): ~30%

Is the missing chromosome in Turner Syndrome most frequently maternal or paternal?

Paternal

What gender is a fetus with turner syndrome?

Female

How many chromosomes does a fetus with Turner syndrome have?

45 chromosomes, including a single X chromosome

Is AFP affected with Turner syndrome?

Yes - Elevated AFP levels

The following sonographic findings are associated with which chromosomal abnormality?

-Cystic hygroma

-Cardiac defects

-Renal anomalies

-Cubitus valgus

-Short femurs

-Nonimmune hydrops

Turner syndrome

Fetal syndromes:

-Demonstrate normal karyotype

-______ refers to a defect of an organ that results from an intrinsically abnormal development process

-______ refers to an abnormal form, shape, or position of a part caused by mechanical forces antenatally

-______ is a defect of an organ resulting from the breakdown of previously normal tissue

-______ refers to a pattern of multiple anomalies that result from a single anomaly or mechanical factor

-Malformation refers to a defect of an organ that results from an intrinsically abnormal development process

-Deformation refers to an abnormal form, shape, or position of a part caused by mechanical forces antenatally

-Disruption is a defect of an organ resulting from the breakdown of previously normal tissue

-Sequence refers to a pattern of multiple anomalies that result from a single anomaly or mechanical factor

The following info describes which fetal syndrome?

-Ruptured amnion sticks and entangles fetal parts

-Associated with fetal abnormalities and amputations

Amniotic band syndrome

The following sonographic findings describe which fetal syndrome?

-Thin hyperechoic linear structure floating within the amniotic cavity

-Fetal abnormalities

Amniotic band syndrome

What are the differential considerations for amniotic band syndrome? (4)

-Synechia

-Amniotic chorionic separation

-Limb-body wall complex

-Placental shelf

Beckwith-Wiedemann syndrome is an _____ syndrome with alteration in chromosome _____.

Overgrowth

Chromosome 11

What is the classic triad seen with Beckwith-Wiedemann syndrome?

1) Macrosomia (large fetus)

2) Omphalocele

3) Macroglossia

The following triad is often seen with which fetal syndrome?

1) Macrosomia (large fetus)

2) Omphalocele

3) Macroglossia

Beckwith-Wiedemann

The following information describes which fetal syndrome?

-Normal karyotype

-Increases risk of developing Wilm's tumor, hemihypertrophy, renal anomalies, and hepatosplenomegaly

Beckwith-Wiedemann Syndrome

The following sonographic findings are associated with which fetal syndrome?

-Hemihypertrophy

-Macroglossia

-Omphalocele

Beckwith-Wiedemann syndrome

What are 3 Beckwith-Wiedemann syndrome sonographic findings?

Hemihypertrophy

Macroglossia

Omphalocele

What is the differential consideration for Beckwith-Wiedemann syndrome?

Down syndrome

What is another name for Eagle-Barrett syndrome?

Prune belly syndrome

The following info describes which fetal syndrome?

-Hypotonic abdominal wall muscles

-Associated with dilated fetal bladder, small thorax, and imperforate anus

Prune Belly/Eagle-Barrett syndrome

What is another name for Prune Belly Syndrome?

Eagle-Barrett syndrome

The following sonographic findings are associated with which fetal syndrome?

-Hydronephrosis

-Megaureter

-Oligohydramnios

-Small thorax

-Large abdomen

-Cryptorchidism

-Hip dislocation

-Scoliosis

Eagle-Barrett / Prune Belly

What is the triad associated with prune belly syndrome?

1) Abdominal wall defects

2) Urinary tract dilatation secondary to urethral obstruction

3) Cryptorchidism

Does prune belly syndrome occur predominately in males or females?

Males

The following info describes which fetal syndrome?

-Rare complex malformation caused by the failure of the closure of the ventral body wall

Two or more of the following:

-Limb defects

-Lateral wall defects (esp. left)

-Encephalocele

-Exencephaly

-Facial defects

-Scoliosis

Limb-body wall complex

The following sonographic findings are associated with which fetal syndrome?

-Ventral wall defect

-Cranial anomalies

-Marked scoliosis

-Limb defects

-Short umbilical cord

-AMniotic bands

Limb-body wall complex

What are the differential considerations for limb-body wall complex (LBWC)? (2)

Amniotic band syndrome

Trisomy 13

True or false:

Meckel-Gruber syndrome is a non-lethal condition.

FALSE

It is lethal

Does Meckel-Gruber syndrome occur more in males or females?

Occurs equally in males and females

Is Meckel-Gruber syndrome autosomal dominant or recessive?

Recessive

The following sonographic findings describe which fetal syndrome?

-Encephalocele

-Infantile polycystic kidneys (b/l enlarged hyperechoic kidneys)

-Oligohydramnios

-Bladder not visualized

-Polydactyly

Meckel-Gruber syndrome

How is the fetal bladder and amniotic fluid level affected with Meckel-Gruber syndrome?

-Oligohydramnios

-Bladder not visualized

What are the differential considerations for Meckel-Gruber syndrome? (2)

Trisomy 13

Infantile polycystic disease

Pentalogy of Cantrell is a congenital disorder characterized by two out of five major defects. List the 5 major defects.

1. Cardiac defect

2. Abdominal wall defect

3.Diaphragmatic hernia

4. Defect of diaphragmatic pericardium

5. Ectopia cordis

The following sonographic findings are seen with which fetal syndrome?

-Pulsating mass outside of the chest cavity

-Omphalocele

-Gastroschisis

-Diaphragmatic hernia

Pentalogy of Cantrell

What are the differential considerations for Pentalogy of Cantrell? (2)

Beckwith-Wiedemann syndrome

Acardiac twin

VACTERL is a group of complex anomalies.

It is associated with maternal _____ and _____ exposure.

Diabetes

Lead

What are the sonographic findings of VACTERL?

-Vertebral defects

-Anal atresia

-Cardiac anomalies

-Tracheoesophageal fistula

-Esophageal atresia

-Renal anomalies

-Limb anomalies

Other:

-Polyhydramnios

-Collapsed stomach

VATER is a group of complex anomalies.

Associated with maternal _____ and _____ exposure.

Diabetes

Lead

What are the sonographic findings of VATER?

-Vertebral defects

-Anal atresia

-Tracheo-Esophageal fistula

-Renal anomalies

Other:

-Polyhydramnios

-Collapsed stomach