National Vital Statistics System

37. Congenital anomalies of the newborn

Category: Newborn Information

BC # 54

Definitions, instructions, sources, keywords and abbreviations
Definitions Malformations of the newborn diagnosed prenatally or after delivery.
Instructions

Check all boxes that apply.

Sources See below
Keywords and Abbreviations See below
Anencephaly
Definitions

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).

Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd  Newborn admission H&P

Keywords and Abbreviations

Anencephalus

Acrania

Absent brain

Craniorachischisis

Exencephaly

Hydraencephaly

Meningomyelocele/Spina bifida
Definitions

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).

Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd  Newborn admission H&P

Keywords and Abbreviations

Meningocele

Rachischisis

Cyanotic congenital heart disease
Definitions Congenital heart defects that cause cyanosis.
Instructions
Sources

1st  Physician progress notes under –

  • Circulation
  • Cardiovascular
Keywords and Abbreviations

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

Congenital diaphragmatic hernia
Definitions Defect in the formation of the diaphragm allowing herniation of abdominal organs into the thoracic cavity.
Instructions
Sources

1st  Infant H&P

2nd  Labor and delivery summary record under–Infant data

Keywords and Abbreviations
Omphalocele
Definitions

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.

Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd Admission H&P under – G.I.

Keywords and Abbreviations Exomphelos
Gastroschisis
Definitions An abnormality of the anterior abdominal wall, lateral to the umbilicus, resulting in herniation of the abdominal contents directly into the amniotic cavity. Differentiated from omphalocele by the location of the defect and the absence of a protective membrane.
Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd Admission H&P under – G.I.

Keywords and Abbreviations
Limb reduction defect
Definitions

Limb reduction defect excluding congenital amputation and dwarfing syndromes.

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

Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd  Newborn H&P

Keywords and Abbreviations

Look for:

Amniotic bands

ABS – Amniotic band syndrome

Cleft lip with or without cleft palate
Definitions Incomplete closure of the lip. May be unilateral, bilateral, or median.
Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd  Newborn H&P

Keywords and Abbreviations Cleft lip (unilateral, bilateral, or median)
Cleft palate alone
Definitions

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.

Instructions
Sources

1st  Labor and delivery summary record under – Infant data

2nd  Newborn H&P

Keywords and Abbreviations
Down syndrome
Definitions

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

Karyotype confirmed

Karyotype pending

Instructions Check if a diagnosis of Down syndrome, Trisomy 21 is confirmed or pending.
Sources

1st  Infant progress notes

2nd  Genetic consult

Keywords and Abbreviations

Trisomy 21

Positive (confirmed)

Possible Down (pending)

Rule out (R/O) Down (pending)

Trisomy 21 mosaicism

Suspected chromosomal disorder
Definitions

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

Karyotype confirmed

Karyotype pending

Instructions Check if a diagnosis of a suspected chromosomal disorder is confirmed or pending. (May include Trisomy 21.)
Sources

1st  Infant progress notes

2nd  Genetic consult

Keywords and Abbreviations

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)
Hypospadias
Definitions

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)
Instructions
Sources

1st  Labor and delivery summary under – Infant data

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

Keywords and Abbreviations

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