37. Congenital anomalies of the newborn

Check all boxes that apply.

Partial or complete absence of the brain and skull.

Also called anencephalus, acrania, or absent brain.

Also includes infants with craniorachischisis (anencephaly with a contiguous spine defect).

1st  Labor and delivery summary record under – Infant data

2nd  Newborn admission H&P

Anencephalus

Acrania

Absent brain

Craniorachischisis

Exencephaly

Hydraencephaly

Spina bifida is herniation of the meninges or spinal cord tissue through a bony defect of spine closure.

Meningomyelocele is herniation of meninges and spinal cord tissue.

Meningocele (herniation of meninges without spinal cord tissue) should also be included in this category.

Both open and closed (covered with skin) lesions should be included.

Do not include Spina bifida occulta (a midline bony spinal defect without protrusion of the spinal cord or meninges).

1st  Labor and delivery summary record under – Infant data

2nd  Newborn admission H&P

Meningocele

Rachischisis

1st  Physician progress notes under –

• Circulation
• Cardiovascular

TGA – Transposition of the great arteries

TOF – Tetratology of Fallot

Pulmonary or pulmonic valvular atresia

Tricuspid atresia

Truncus arteriosus

TAPVR – Total/partial anomalous pulmonary venous return with or without obstruction

COA – Coarctation of the aorta

HLHS – Hyposplastic left heart syndrome

IAA – Interrupted aortic arch

1st  Infant H&P

2nd  Labor and delivery summary record under–Infant data

A defect in the anterior abdominal wall in which the umbilical ring is widened, allowing herniation of abdominal organs into the umbilical cord.

The herniating organs are covered by a nearly transparent membranous sac (different from gastroschisis [see below]), although this sac may rupture. Also called exomphalos.

Do not include umbilical hernia (completely covered by skin) in this category.

1st  Labor and delivery summary record under – Infant data

2nd Admission H&P under – G.I.

1st  Labor and delivery summary record under – Infant data

2nd Admission H&P under – G.I.

Limb reduction defect excluding congenital amputation and dwarfing syndromes.

Complete or partial absence of a portion of an extremity, secondary to failure to develop.

1st  Labor and delivery summary record under – Infant data

2nd  Newborn H&P

Look for:

Amniotic bands

ABS – Amniotic band syndrome

1st  Labor and delivery summary record under – Infant data

2nd  Newborn H&P

Incomplete fusion of the palatal shelves. May be limited to the soft palate or may extend into the hard palate.

Cleft palate in the presence of cleft lip should be included in the category above.

1st  Labor and delivery summary record under – Infant data

2nd  Newborn H&P

Trisomy 21 – A chromosomal abnormality caused by the presence of all or part of a third copy of chromosome 21.

Karyotype confirmed

Karyotype pending

1st  Infant progress notes

2nd  Genetic consult

Trisomy 21

Positive (confirmed)

Possible Down (pending)

Rule out (R/O) Down (pending)

Trisomy 21 mosaicism

Includes any constellation of congenital malformations resulting from or compatible with known syndromes caused by detectable defects in chromosome structure.

Karyotype confirmed

Karyotype pending

1st  Infant progress notes

2nd  Genetic consult

Trisomy and then a number such as:

• 13–Patau’s syndrom
• 17 or 18–Edward syndrome
• Positive (confirmed)
• Possible trisomy __(pending)
• Rule out (R/O) (pending)

Incomplete closure of the male urethra resulting in the urethral meatus opening on the ventral surface of the penis.

Includes:

• First degree (on the glans ventral to the tip)
• Second degree (in the coronal
  sulcus)
• Third degree (on the penile shaft)

1st  Labor and delivery summary under – Infant data

2nd  Newborn H&P under – Genitourinary (GU)