Inhibin A (DIA)
only found in second trimester and is increased with Trisomy 21.
nuchal translucency
thickness that is seen on ultrasound. Associated with Trisomy 21, 13, and 18, Turner's
Syndrome, Cardiac Defects.
non-invasive prenatal testing (NIPT)
analyzes cell-free fetal DNA circulating in maternal blood. New option for prenatal
screening for Trisomies. Done after 10 weeks. Not the best choice if patient wants
certainty or is concerned about less common disorders. This does not screen for NTDs.
If positive, means significantly increased risk for aneuploidy. If negative than decreased
risk.
ultrasound
noninvasive; uses reflected sound waves converted to an image. Transducer placed on
abdomen. See physical features of fetus, not chromosomes (NTD, heart defects). May
ID some chromosomal abnormalities by physical features. Needed to perform
amniocentesis and CVS.
chorionic villus sampling (CVS)
DNA analysis on cells from chorionic villi. Performed earlier than amniocentesis at 10-12
weeks vs 14 weeks. Karyotypes available within 24-36 hours. Cannot do AFP testing.
Increased risk of spontaneous abortion.
amniocentesis
used in 14-18 weeks. Diagnose more than 100 disorders; cells analyzed for
chromosomal and biochemical disorders. Risk of infection and spontaneous abortion.
Normally used when there is advanced maternal age, suspected chromosomal disorder,
mother is the carrier of recessive or X-linked disorder, fetal AFP levels high with serum
tests.
preimplantation genetic diagnosis
prerequisite for in vitro fertilization. Requires access to embryo, blastomere biopsy,
genetic analysis of each embryo, and selected embryo transfer. Finds aneuploidy, sex-
linked disorder, and autosomal single gene disorders (CF). Identifies embryo genotype
before implanted and pregnancy proceeds. Eggs are collected, fertilized, and allowed to
develop. Upon third day of fertilization, embryo has 6-8 cells. One cell (blastomere) is
removed. DNA extracted and tested. Embryo without genetic disorder implanted into
mother. Ethical issues surrounding this.
teratogen
an agent that produces or increases the incidence of congenital malformations
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dilantin (hydantoin)
effects of this on fetus include cleft lip/palate, characteristic unusual faces, (eyes more
widely spaced, "cupid's bow" shaped upper lip), limb defects (hypoplasia of distal
phalanges, small nails).
valproic acid (fetal valproate syndrome)
characteristic faces (epicanthal folds that connect with an intraorbital crease, short
nose, long philtrum, small mouth); cardiovascular abnormalities (including aortic
coarctation, hypoplastic left heart, aortic valve stenosis); long thin fingers and toes;
increased risk for midline defects (NTD, cleft lip/palate).
folic acid
prevents development of the neural tube defects and other birth defects. Important to
take this supplement, especially before 4 weeks post conception. 400mcg daily,
beginning three months before attempting conception and continuing throughout the
first trimester.
cord blood banking
collected, stem cells recovered, processed and stored in liquid nitrogen tanks. Used for:
Aplastic anemia, Leukemia, Cerebral Palsy, Diabetes Type I, Sickle cell, Beta
Thalassemia, Hydrocelphalus (ex). Cost: $2,000: Initial processing and banking;
$125/Yr: Annual Storage Fee.
newborn screening
Detects newborns whose conditions may not be readily identified at birth. All the genetic
disorders on the screening panel are autosomal recessive in inheritance (with the
exception of congenital hypothyroidism). Early diagnosis and treatment of infants
affected to improve their prognoses and may prevent mental retardation and disease
related premature deaths. Started with PKU in 1965. Obtained through heelstick. Will
receive results from PCP in 2 weeks.
state inclusion criteria for newborn screening
The disorder is serious (life-threatening or a severe threat to an infant's well-being). A
reliable laboratory screening test for the disorder can be performed in the newborn
period. Screening can be done at reasonable cost. An effective treatment for the
disorder is available. Medical facilities are available to confirm the diagnosis and provide
treatment.
collection procedure for newborn screening
blood specimens are collected on a special filter paper. Correct completion of the
newborn screening card is a critical. Inaccurate information could cause errors in
screening results or cause a life-threatening delay for infants affected with one of the
disorders. The specimen submitter (hospital, outpatient lab, or provider delivering the
newborn) is legally responsible for the accuracy and completeness of the information on
the newborn screening card.
repeat screening
this is needed if: Improperly collected blood spots; Collection before 24 hours of age;
Prematurity; Collection after a transfusion; Collection while on total parenteral nutrition;
Specimen heat exposure.
hearing loss
3/1000 are born with this. More common than many other disabilities present at birth.
Hidden disability; importance of screening. This may affect child's speech, language,
and cognitive development.
auditory brainstem response
tests the infant's ability to hear soft sounds through miniature earphones. Sensors
measure a baby's brainwaves to determine if soft sounds can be heard.
otoacoustic emissions
measured directly with a miniature microphone and sent to a special computer to
determine a baby's hearing status.
complications from hearing screening
some infants do not pass the first screen and require a second evaluation; may have
been that the infant was too active, had debris in the ear canal, or was discharged from
the hospital before this was completed. Results are reported as pass, refer, or fail.
birth defects
caused by chromosome disorders, single gene defects, combo of genetic and
environmental factors, physical constraints of fetus in utero, infectious agents, drugs,
chemicals, radiation exposure in utero, maternal metabolic disorders, and unknown.
association
birth defect; nonrandom occurrence together with a pattern of multiple anomalies, but
not yet known as a syndrome.
VATER association (VACTERL)
association; includes vertebral, anal anomalies, cardiac, tracheo-esophageal fistula,
renal anomalies, and limb anomalies
disruption
birth defect; initial development is normal, but defective organ or tissue result from
interference. Ex: thalidomide.
deformation
birth defect; an abnormal form, shape, or position caused by mechanical forces. Ex:
clubfoot. Something constricting in the uterus that is causing them to come out
malformed (oligohydramnios).
malformation
morphologic defect that results from intrinsic abnormal development. Ex. cleft lip.
syndrome
a pattern of multiple anomalies caused from the same etiology. Ex. Down's syndrome.
sequence
pattern of multiple anomalies from a single prior anomaly. Ex. Pierre Robin syndrome.
diabetes mellitus
complex genetic disorder; generally manifests at 4-6 weeks old. Predisposition to
developing autoimmune response that triggers the disease is inherited. Inherited
Human Leukocyte Antigen (HLA) gene coding on Chromosome 6. Viral infection triggers
autoimmune destruction of pancreatic beta cells. Incidence is 1:400, or 1:20 if parent is
affected.
asthma
complex genetic disorder; 50-100 genetic variations contribute. Occurs in gene coding
for proteins regulating inflammation. Smoke and chemicals. Release of immunoglobulin
E (IGE).
congenital heart disease
5-10% chromosomal or single gene mutation, 1-2% environmental; 25-45% have more
anomalies (GU, GI, musculoskeletal). If multifactorial, then the future siblings have 2-4%
of getting this, and then the sibling after that has 6-12% chance of getting it.
HOLT-ORAM
caused by TBX5 gene that provides the protein for making the heart and limbs.
Autosomal dominant. Skeletal abnormalities of hands and arms. Missing thumb or long
thumb that looks like a finger. Partial or complete absence of bone in forearm.
Abnormalities of bone/shoulder blades. Can affect 1 or both limbs. 75% have heart
problems - ASD, VSD, cardiac conduction (bradycardia/fibrillation problems).
developmental dysplasia of the hip (DDH)
1% of all live births. Genetic and environmental causes. Lax dislocated hip to hip that
can't be reduced. Most common orthopedic disorder. Occurs with breech presentations,
first borns, positive family history, females more often, cradle board and swaddling.
Signs and symptoms include shallow angled acetabulum, lax connective tissue, and
inborn error of hormone metabolism. Limping, unequal leg length, delayed walking,
asymmetric thigh creases, walking on tiptoe, difficulty with crawling, noticeable short
leg, uneven shoe wear. Tested with Barlow test (adduction) and Ortolani test
(abduction). Diagnosed at birth. Treated with Pavlik harness or Spica cast for 12 weeks
or so.
anecephaly
vault of skull is absent. Neural tube defect. Incompatible with life.
spina bifida occulta
one vertebra not fused; may have tuft of hair.
spina bifida meningocele
meninges protrude or herniate.
spina bifida myelomeningocele
meninges and spinal cord protrude from defective vertebrae.
encephalocele
meninges and brain protrude through gap in the skull (often posterior fontanelle).
Requires shunts. May have developmental delays.
neural tube defects
caused by poor diets, folic acid deficiency, deficiency in ascorbic acid and zinc, higher
risk in obese women, folate-related genes and planar cell polarity genes, MTHFR gene
(located on short arm of chromosome 1). Relationship between these and hyperthermia
(jacuzzi or fever). Prevented by supplementation of folic acid and vitamins. 400 mcg of
folic acid for childbearing age.
cleft lip (palate)
300 syndromes included in this. 30% accompanied with other anomalies. Evaluate to
exclude other syndromes/disorders. B-12 and folic acid help reduce risk recurrence by
50%. Cigarette smoking during pregnancy risk factor. Must be repaired as early as
possible. May resume nursing 24 hours after repair. Susceptible for ear infections and
hearing loss. May require special nipple for feeding.
cleft lip feeding issues
cannot create suction, need small plastic artificial palate. Use different types of nipples.
May breastfeed. Swallow air, so must burp frequently. Feeding may take 30-45 min.
Trisomy 21
1 in 830 newborns; extra Chromosome 21. 90% maternal origin. High risk for newborn
leukemia and ALL. Scoliosis and hip dislocation. Congenital heart defects.
Hypothyroidism. Enlarged colon - celiac disease and duodenal atresia. Otitis media and
hearing impaired. Eyes - strabismus, nystagmus, glaucoma, cataracts. Brushfield spots
on the eyes. 50% of offspring will have this disorder. Males have hypogonadism and are
infertile (females are fertile). 60 year life expectancy.
cri-du-chat syndrome (LeJeune's syndrome)
autosomal deletion; cry sounds like a cat (disappears by 2 years old).
DiGeorge syndrome
autosomal deletion; heart defects, poor immune system, cleft palate, decreased calcium
levels, delayed development with emotional and behavioral problems.
Wolf-Hirschhorn syndrome
autosomal deletion; facial appearance of flat nasal bridge with high forehead. Known as
Greek Warrior Helmet. Delayed growth and development. Intellectual disabilities,
seizures, microcephaly, skin tags.
osteogenesis imperfecta
autosomal dominant; mutations in COL1A1 and COLA12 responsible for 90%. Type 1
due to ineffective allele causing half normal production of type 1 collagen. Bone fragility,
blue sclerae, progressive bone deformities, hearing loss, dentinogenesis imperfect,
Wormian bones (intrasutural), hernias, joint hyperlaxity, elevated body temp 1-2 deg.
Heat intolerance. Short stature. Triangular face. Type 1 could be missed. Variable
amount of fractures. Pad bed, never lift from ankles, light clothing, force fluids,
temperature runs high. Delayed developmental milestones. Must take Calcium and
Vitamin D and biphosphonates. Pamidronate used IV.
Fragile X syndrome
most common form of inherited retardation. More common in males. Expansion of CGG
trinucleotide repeats in FMR1 gene which encodes FMRP. Macroorchidism, IQ 20-70.
Large, low set ears, hypotonia, soft skin, aversion of gaze, mitral valve prolapse, large
prominent jaw and forehead, large head circumference, flat feet, high arched palate,
strabismus, hyperactivity, hyperextendable joints.
Prader-Willi syndrome
deletion of 15Q11-Q13 (70%), maternal uniparental disomy (25%), methylation defect in
chromosome 15 (5%). Hypotonia in infancy, delay of milestones, thin upper lip,
cryptorchidism, small testes, small stature, feeding problems (insatiable appetite),
almond-shaped eyes, hypogonadism, sleep disturbances (apnea), extreme obesity.
pediatric genetic disorders
isolated/sporadic, teratogen, cytogenic/chromosomal, single gene, metabolic.
head circumference
measured just above the eyes; taken 3 times, and largest measure is used.
gather information
measurements, referral indications, past hospitalizations (including surgical history),
social history (divorce, tobacco use, abuse), family history, pregnancy (gravida, parity,
GDM), NICU stay, exposure to teratogens, measurements since birth. Developmental
delay, school status (good grades, kept behind), behavior (ADHD, eye contact). Review
of systems and previous diagnostic studies.
dysmorphology
study of abnormal development; focuses on minor anomalies or atypical features.
Based on average human features; depends on ethnicity. Patterns give clues to
diagnosis.
hypotelorism
when eyes are very close together
hypertelorism
when eyes are very far apart
anopthalmia
when one or both eyes are missing
clinodactyly
brachydactyly
arachnodactyly
camptodactyly
syndactyly
Port wine spots
red spots on the face; associated with vascular disorders
metabolic disorders
when a metabolite builds up; the enzyme that converts it to the product is somehow
dysfunctional. This leads to not enough product. Ex. PKU with inability to convert
phenylalanine into tyrosine. Typically autosomal recessive (few are X-linked recessive).
Symptoms include FTT, lethargy, coma, seizures, unusual odor, developmental delay,
eye abnormalities, frequent infections, metabolic acidosis, SIDS.
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