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OBGYN > Chromosomal abnormalities and syndromes registry review > Flashcards

Chromosomal abnormalities and syndromes registry review Flashcards

1
Q

Advance maternal age

A

35yo or older in EDD

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2
Q

Karyotyping

A

Analysis of fetal chromosomes

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3
Q

Sequence

A

Single defect leading to development of other defects

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4
Q

Syndrome

A

Group of clinically observable findings that often exist together

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5
Q

Association

A

Nonrandom occurrence of at least 3 associated defects

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6
Q

Anomaly

A

Any structural feature that is abnormal

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7
Q

Aneuploid

A

Any abnormal number of chromosomes

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8
Q

Euploid

A

Normal chromosomes

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9
Q

Diploid

A

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

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10
Q

Triploid

A

Three complete sets = 69 chromosomes

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11
Q

Monosomy

A

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

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12
Q

Trisomy

A

Three copies of one individual chromosome. One extra=47

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13
Q

Mosaic

A

Mixed pattern aneuploid

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14
Q

Fetal karyotyping

A

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

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15
Q

Chorionic Villi Sampling

A

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%

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16
Q

Amniocentesis

A

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

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17
Q

Cordocentesis

A

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%

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18
Q

Trisomy 21 (Down’s syndrome)

A

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

19
Q

Trisomy 21 screening findings

A

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

20
Q

Sonographic findings of T21

A

-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

21
Q

Trisomy 18 (Edwards syndrome)

A

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

22
Q

Trisomy 18 screening findings

A

All lab values decreased

23
Q

Sonographic findings of T18

A

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

24
Q

Trisomy 13 (Patau’s syndrome)

A

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

25
Q

Trisomy 18 screening findings

A

Unspecified

26
Q

Sonographic findings for T18

A

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

27
Q

Monosomy X (Turner’s syndrome)

A

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

28
Q

Monosomy X screening findings

A

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

29
Q

Sonographic findings of of monosomy X

A

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

30
Q

Triploidy

A

3 sets with total of 69 chromosomes
*usually fatal early

31
Q

Triploidy screening findings

A

High hcG (with molar)

32
Q

Sonographic findings of triploidy

A

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

33
Q

Meckel-Gruber syndrome

A

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

34
Q

Potters syndrome

A

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

35
Q

Beckwith-Wiedemann syndrome

A

Rare genetic disorder characterized by overgrowth
-Macroglossia
-Large organs

36
Q

Pentalogy of Cantrell

A

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

37
Q

VACTERL syndrome

A

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

38
Q

Amniotic band syndrome

A

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

39
Q

Limb body wall complex

A

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

40
Q

Fetal Alcohol syndrome

A

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

41
Q

Kleebattschadel

A

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)

42
Q

Holt-Oram/ Heart-Arm

A

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

43
Q

Treacher-Collins/ Collar

A

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

OBGYN (17 decks)

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