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BABY AD

BABY AD . Identifying data. Newborn male Filipino Born on Nov 19, 2013 via scheduled repeat CS. Birth History. Born full term 45 year old G3P2 (3012) 38 6 /7 weeks age of gestation based on LMP 38 weeks by MT, AGA AS 9, 9 BW 2860 grams BL 46 cm HC 34 cm CC 30 cm AC 30 cm.

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BABY AD

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  1. BABY AD

  2. Identifying data • Newborn male • Filipino • Born on Nov 19, 2013 via scheduled repeat CS

  3. Birth History • Born full term • 45 year old G3P2 (3012) • 38 6/7 weeks age of gestation based on LMP • 38 weeks by MT, AGA • AS 9, 9 • BW 2860 grams • BL 46 cm • HC 34 cm • CC 30 cm • AC 30 cm

  4. Maternal history • >7prenatal check ups • UTI 1st trimester; treated with Cefalexin for 7 days • No fever, no rashes • Regular intake of ferrous sulfate and multivitamins • Maternal blood type: A+ • HbsAg nonreactive • OGCT normal • CBC and urinalysis were not done

  5. Maternal Past Medical History • No Diabetes • No Hypertension • No asthma or allergy

  6. Family History • (+) Diabetes Mellitus- maternal • (-) Hypertension • (-) Congenital Anomalies

  7. Pedigree Chart

  8. OB-GYN History • G1- 2010 spontaneous abortion; s/p D&C • G2- 2011 live full term male PCS for fetal macrosomia and elderly primigravid, 9 lbs 2 ounces, TMC • G3 – Present pregnancy

  9. Delivery • Clear amniotic Fluid • (+) Low set ears • (-) Cleft lip/Cleft palate • Good air entry • Good cardiac tone, HR 150 • Grossly male genitalia • Extended scrotal skin over the penis

  10. Stay at the NICU

  11. Course in the NICU

  12. Course in the NICU

  13. Course in the NICU

  14. Pertinent features • Mild upslanting of palpebral fissure • Median epicantic folds • Dysplastic right helix • Hypoplastic nipples • Mid phalanx hypoplasia, 5th digit with clinodactyly

  15. 2D Echo • Normal echocardial structure • Normal function • Small PDA 1- 2 mm, continuous flow • Transitional Circulation

  16. Trisomy 21/ Down’s Syndrome • Chromosomal condition associated with intellectual disability, a characteristic facial appearance, and hypotonia • Each cell in the body has three copies of chromosome 21 instead of the usual two copies

  17. Epidemiology • From January 1, 2009 to January 1, 2013:

  18. Features • Decreased muscle tone at birth • Excess skin at the nape of the neck • Flattened nose • Separated joints between the bones of the skull (sutures) • Single crease in the palm of the hand • Small ears • Small mouth • Upwardslantingeyes • Wide, short hands with short fingers

  19. Genetics: Trisomy 21 • During reproduction and fertilization, the baby is a set of 46 chromosomes, 23 from the mother and 23 from the father (divided from the usual 46 chromosomes of each parent) • An error occurs where the egg or sperm cell keeps both copies of the 21 chromosome hence the extra chromosome

  20. Complications • Congenital heart defects • Visual and hearing impairment (e.g. crossed- eyes, near- or far- sightedness or cataracts) • Thyroid problems • Leukemia • Recurrent respiratory infection • Intestinal problems • Skeletal problems

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