Chromosomal abnormalities and syndromes registry review

Question 1

Advance maternal age

Answer 1

35yo or older in EDD

Question 2

Karyotyping

Answer 2

Analysis of fetal chromosomes

Question 3

Sequence

Answer 3

Single defect leading to development of other defects

Question 4

Syndrome

Answer 4

Group of clinically observable findings that often exist together

Question 5

Association

Answer 5

Nonrandom occurrence of at least 3 associated defects

Question 6

Anomaly

Answer 6

Any structural feature that is abnormal

Question 7

Aneuploid

Answer 7

Any abnormal number of chromosomes

Question 8

Euploid

Answer 8

Normal chromosomes

Question 9

Diploid

Answer 9

Two complete sets of chromosomes. Humans have 23 pairs = 46 chromosomes

Question 10

Triploid

Answer 10

Three complete sets = 69 chromosomes

Question 11

Monosomy

Answer 11

Only one of an individual chromosome. Miss one = 45 chromosomes

Question 12

Trisomy

Answer 12

Three copies of one individual chromosome. One extra=47

Question 13

Mosaic

Answer 13

Mixed pattern aneuploid

Question 14

Fetal karyotyping

Answer 14

Probe to needle angle should be as close to 90 degrees for constant visualization. Needle will be hyperechoic with reverberation

Question 15

Chorionic Villi Sampling

Answer 15

Samples placenta for aspiration of trophoblastic cells.
-Earliest procedure done TA or TV (depending on placental location) between 10-12 weeks
-Fetal loss rate = 0.8%

Question 16

Amniocentesis

Answer 16

Samples amniotic fluid, 15 weeks+
-US guided TA
-Identify max vertical pocket, placenta, fetal position
-Fetal loss rate = 0.5%

Question 17

Cordocentesis

Answer 17

Percutaneous umbilical cord sampling (PUBS)
-Samples fetal blood
-US guided after 17 weeks, samples through umbilical cord near insertion into placenta
-Fetal loss rate = 0.1%

Question 18

Trisomy 21 (Down’s syndrome)

Answer 18

Most common aneuploid, 1 in 800 births
*risk greatly increased with increased maternal age

Question 19

Trisomy 21 screening findings

Answer 19

-Elevated hCG and inhibin-A
-Low AFP, estriol, and PAPP-As

Question 20

Sonographic findings of T21

Answer 20

-Absent nasal bone
-Flattened profile
-Thickened nuchal fold (NF)
-Macroglossia
-Echogenic intracardiac focus (EIF)
-Cardiac defects (AV canal- AVSD)
-Duodenal atresia (double-bubble)
-Echogenic bowel (can also be cystic fibrosis)
-Short limbs
-Sandal gap feet

Question 21

Trisomy 18 (Edwards syndrome)

Answer 21

Rare genetic disorder that occurs when a person has an extra copy of chromosome 18
*Usually fatal

Question 22

Trisomy 18 screening findings

Answer 22

All lab values decreased

Question 23

Sonographic findings of T18

Answer 23

-Choroid plexus cysts
-Strawberry skull
-Micrognathia
-Omphalocele
-Esophageal atresia
-Clenched hands/clinodactyly
-Rockerbottom feet
-Cardiac defects

Question 24

Trisomy 13 (Patau’s syndrome)

Answer 24

Rare genetic condition that causes severe physical and intellectual disabilities in infants
*Usually fatal

Question 25

Trisomy 18 screening findings

Answer 25

Unspecified

Question 26

Sonographic findings for T18

Answer 26

-Holoprosencephaly -Facial abnormalities -Microcephaly -Polydactyly -Omphalocele -Cardiac defects (hypoplastic lt heart) -Talipes equinovarus (clubfeet)

Question 27

Monosomy X (Turner's syndrome)

Answer 27

Rare genetic condition that causes severe physical and intellectual disabilities in infants. Most common sex chromosomal abnormalities in females.

Question 28

Monosomy X screening findings

Answer 28

-Low AFP and estriol -With hydrops: low hCG and inhibin A -Low PAPP-A

Question 29

Sonographic findings of of monosomy X

Answer 29

-Females -Cystic hygroma -Increased NT -Renal anomalies (horseshoe/agenesis) -Cardiac defects -Nonimmune hydrops

Question 30

Triploidy

Answer 30

3 sets with total of 69 chromosomes *usually fatal early

Question 31

Triploidy screening findings

Answer 31

High hcG (with molar)

Question 32

Sonographic findings of triploidy

Answer 32

-Partial molar -Small, low set ears -Syndactyly -IUGR -Cardiac defects -Thecal lutein cyst

Question 33

Meckel-Gruber syndrome

Answer 33

Rare inherited disorder characterized by abnormalities affecting several organ systems of the body -PKD -Encephalocele -Microcephaly -Polydactyly

Question 34

Potters syndrome

Answer 34

Rare condition that affects the growth and function of a baby's kidneys and other internal organs -Bilateral renal agenesis -Oligohydramnios -Pulmonary hypoplasia -Facial deformities

Question 35

Beckwith-Wiedemann syndrome

Answer 35

Rare genetic disorder characterized by overgrowth -Macroglossia -Large organs

Question 36

Pentalogy of Cantrell

Answer 36

Rare congenital syndrome that affects the heart, pericardium, diaphragm, sternum, and abdominal wall -Omphalocele -Ectopia cordis -Sternal and diaphragm defects

Question 37

VACTERL syndrome

Answer 37

Group of conditions that occur together, each letter stands for: -Vertebral defects -Anal atresia -Cardiac defects -Tracheo-esophageal fistula -Renal anomalies -Limb abnormalities

Question 38

Amniotic band syndrome

Answer 38

Fibrous bands of the amniotic sac become entangled around a developing fetus -Limb amputations -Facial clefts -Gastroschisis -Skeletal defects

Question 39

Limb body wall complex

Answer 39

Serious abnormality where the baby's organs are outside of the baby's body and attached to the placenta -Abdominal wall defects -Scoliosis -Facial defects -Limb defects

Question 40

Fetal Alcohol syndrome

Answer 40

Lifelong physical and mental disabilities due to maternal alcohol consumption during pregnancy -IUGR -Microcephaly -Microophthalmos (small eyes) -Cardiac defects -Hypospadias

Question 41

Kleebattschadel

Answer 41

Rare malformation of the head where there is a protrusion of the skull and broadening of the face -Cloverleaf skull due to craniosynostosis (premature fusion of sutures)

Question 42

Holt-Oram/ Heart-Arm

Answer 42

A genetic condition that causes abnormalities in the upper limbs and heart

Question 43

Treacher-Collins/ Collar

Answer 43

A genetic disorder that affects the development of the face and skull, and can cause deformities in the eyes, ears, cheekbones, and chin