- 1 in 5000 herniation of intestines - failure of intestines to return to the abdominal cavity - associated with increased risk for chromosome abnormalities and imprinting defects (BWS)

- 1 in 10,000 births - more common in males and on right side of umbilicus - generally isolated - due to incomplete closure of the lateral folds during the 4th week of gestation

- narrowing of the segment between the stomach and duodenum - causes projectile vomiting - 1 in 150 males, 1 in 750 females - RR is higher if the index case is a female

- causes polyhydramnios and double bubble sign on US - 20-30% of affected infants have T21

- unilateral more commonly (frequently L kidney), M>F - bilateral: 1 in 3,000-10,000 - causes Potter sequence when bilteral

- Anuria - Oligohydramnios - Hypoplastic lungs - Characteristic facies - Renal failure

- 3-5 in 1000 - rate has doubled; due to rise of environmental estrogens (?)

- 1 in 10,000 live births - often associated with other birth defects - 4-5wks of development is the most sensitive time - Meromelia: partial absence of limb - Amelia: complete absence of limb - Phocomelia: absent long bones, rudimentary hands and feet attached to the trunk - Micromelia: all segments are present but abnormally short

- extra digits - often a dominant trait in families

- fusion of fingers/toes - failure of mesenchyme to break down

Prenatal Flashcards by Grace VanNoy

Tracheoesophageal Fistula

the most common anomaly of the lower respiratory tract
1 in 3000-4500 live births
predominantly affects males
polyhydramnios commonly seen in pregnancy

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VACTERL assocication

Vertebral anomalies
Anal atresia
Cardiac defects
TEF
Renal anomalies
Limb defects

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Congenital Diaphragmatic Hernia

1 in 2000-5000 births
80% left sided
60-70% survival
abdominal contents can herniate causing pulmonary hypoplasia and hypertension

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When do the intestines return to the abdomen in fetal development?

during the 10th week of development

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Omphalocele

1 in 5000 herniation of intestines
failure of intestines to return to the abdominal cavity
associated with increased risk for chromosome abnormalities and imprinting defects (BWS)

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Gastroschisis

1 in 10,000 births
more common in males and on right side of umbilicus
generally isolated
due to incomplete closure of the lateral folds during the 4th week of gestation

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Pyloric stenosis

narrowing of the segment between the stomach and duodenum
causes projectile vomiting
1 in 150 males, 1 in 750 females
RR is higher if the index case is a female

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Duodenal atresia

causes polyhydramnios and “double bubble” sign on US

- 20-30% of affected infants have T21

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Renal agenesis

unilateral more commonly (frequently L kidney), M>F
bilateral: 1 in 3,000-10,000
causes Potter sequence when bilteral

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Potter sequence

Anuria
Oligohydramnios
Hypoplastic lungs
Characteristic facies
Renal failure

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hypospadius

3-5 in 1000

- rate has doubled; due to rise of environmental estrogens (?)

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limb defects

1 in 10,000 live births
often associated with other birth defects
4-5wks of development is the most sensitive time
Meromelia: partial absence of limb
Amelia: complete absence of limb
Phocomelia: absent long bones, rudimentary hands and feet attached to the trunk
Micromelia: all segments are present but abnormally short

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Polydactyly

extra digits

- often a dominant trait in families

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Syndactyly

fusion of fingers/toes

- failure of mesenchyme to break down

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Ectrodactyly

“lobster claw” deformity

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Club foot

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1 in 1000
M>F
Can be unilateral or bilateral

Arthrogryposis

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stiff joints and abnormal muscle development

- decreased fetal movement

Klippel-Feil syndrome

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short neck, low hairline, restricted neck movement
reduced number of cervical vertebral bodies (normal is 7)
can be n

Amniocentesis

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after 15 weeks GA
allows for cytogenetic analyss, molecular genetic analysis (if the specific mutation is known), and biochemical analysis
Indicated for ONTD or AWD: increased AFAFP and presence of AChE
test for CMV, toxoplasmosis, etc.
results: rapid FISH in 24-48 hours, AFAFP in 2-3 days, full karyotype in 10-14 days

Chorionic villus sampling

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performed between ~10-13 weeks
transcervical (better for posterior placenta, higher chance of MCC) or transbdominal (better for anterior placentas)
cannot test for ONTDs
slightly higher risk than amnio
results: rapid FISH in 24-48 hours, full karyotype in 10-14 days
slightly less accurate than amnio due to chance for mosicism and MCC

Mosaicism in CVS

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occurs ~1% of the time
90% of the time it represents confined placental mosaicism
10% = fetal mosaicism

Percutaneous Umbilical Blood Sampling (PUBS)

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generally used after 18 weeks
best site of collection is at the placental cord insertion
indications: fetal infection, fetal anemia, thrombocytopenia, hemophilia, immune hydrops
higher risk of miscarriage than CVS and amnio

1st trimester screening

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US for NT measurement
Serum analytes: Beta HCG and PAPP-A
Accuracy for T21: 85%

Low PAPP-A in FTS

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considered <5th %ile
spontaneous fetal loss
low birth weight
preeclampsia, gestational hypertension
preterm birth
stillbirth, preterm premature rupture of membranes, placental abruption

Quad Screen

- evaluares risk of trisomies, NTDs and placental abnormalities - analytes: AFP, hCG, uE3, and Inhibin A

Crown-rump length

Used for pregnancy dating in 1st trimester US

2nd trimester US dating markers

- femur length - biparietal diameter - abdominal circumference - cerebellum

Indications for growth ultrasounds

- risk of stillbirth/poor fetal growth: HTN, renal disease, obesity, hx poor fetal growth, small for dates, abnormal serum screening - suspected large baby: diabetes, larger for dates

Miscarriage

- loss <20 weeks GA - 1 in 6 clinical pregnancies end in miscarriage - 1 in 4 chemical pregnancies end in miscarriage

Causes of miscarriage

- ~50% chromosomal abnormalities: 30% trisomy (T16 most common in SABS), 20% monosomy X, 15% tirploidy - Single gene disorders: alpha thal, myotonic dystrophy, X-linked dominant - 5-15% immunologic factors: antiphospholopid syndrome - 15-60% endocrine abnormalities: PCOS, progesterone deficiency, thyroid abnormalities, diabetes - thrombophilias: Factor V leiden & Prothrombin - 10-15% anatomical abnormalities (i.e. spetate uterus, bicornate uterus) - environmental: chemicals, lifestyle, infections

Recurrent pregnancy loss

definition: > 2 or 3 miscarriages, cause not determined for >50% of couples, up to 75% of couple with RPL will have a successful next pregnancy evaluations: - parental karyotypes - karyotype on POC when possible - immunological work-up: antiphospholipid syndrome - endocrine abnormalities: PCOS, progesterone deficiency, thyroid function, diabetes - thrombophilia work-up: Factor V and prothrombin - screening for uterine abnromalities

hemoglobin A1C

levels of HbA1C tells how well glucose has been regulated during critical period in pregnancy

IUFD/Stillbirth

- defined as >20 weeks GA in MA - 86% occur pre-labor, 14% during L&D - Cause determined in 50% of cases - 6.5/1000 pregnancies in the US

Prenatal Flashcards

(33 cards)